Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms (Q33711126)

28 July 2017

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms (English)

1 reference

hereditary spastic paraplegia

28 July 2017

1 reference

John K Fink

1

1 reference

28 July 2017

30 July 2013

1 reference

28 July 2017

Acta Neuropathologica

1 reference

28 July 2017

126

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28 July 2017

307-328

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28 July 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1007/s00401-013-1115-8

28 July 2017

0 references

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Molecular Mechanisms in Amyotrophic Lateral Sclerosis: The Role of Angiogenin, a Secreted RNase.

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Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis

14 July 2018

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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

14 July 2018

1 reference

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Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

14 July 2018

1 reference

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Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Amyotrophic lateral sclerosis: update and new developments.

14 July 2018

1 reference

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Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

ERLIN2 promotes breast cancer cell survival by modulating endoplasmic reticulum stress pathways.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Neuronal Functions of ESCRTs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The fifth adaptor protein complex

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Connexins and the gap in context

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Child neurology: hereditary spastic paraplegia in children

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Molecular mechanisms of gap junction mutations in myelinating cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Network organization of the human autophagy system

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Generation of lysophosphatidylinositol by DDHD domain containing 1 (DDHD1): Possible involvement of phospholipase D/phosphatidic acid in the activation of DDHD1.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Identification of novel spartin-interactors shows spartin is a multifunctional protein

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Swiss Cheese, a protein involved in progressive neurodegeneration, acts as a noncanonical regulatory subunit for PKA-C3.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Neuropathy target esterase gene mutations cause motor neuron disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The hereditary spastic paraplegia protein spartin localises to mitochondria

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The Troyer syndrome (SPG20) protein spartin interacts with Eps15.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A novel phospholipase A1 with sequence homology to a mammalian Sec23p-interacting protein, p125.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: myelination and development

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Cellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Neural cell recognition molecule L1: relating biological complexity to human disease mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Neural development and neurodegeneration: two faces of neuropathy target esterase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Neuropathy target esterase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Characterization of a fourth adaptor-related protein complex

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

p125 is a novel mammalian Sec23p-interacting protein with structural similarity to phospholipid-modifying proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

AP-4, a novel protein complex related to clathrin adaptors

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

MRI of autosomal dominant pure spastic paraplegia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary spastic paraplegia and Evans's syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary spastic paraplegias

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Evidence for the existence of neurotoxic esterase in neural and lymphatic tissue of the adult hen.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Organophosphorus ester-induced delayed neurotoxicity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Familial spastic paraplegia with Kallmann's syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Classification of the hereditary ataxias and paraplegias

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Strümpell's familial spastic paraplegia: genetics and neuropathology

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

The primary biochemical lesion leading to the delayed neurotoxic effects of some organophosphorus esters.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Familial cerebral palsy associated with normal intelligence

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Molecular cloning of microtubule-associated protein 1 (MAP1A) and microtubule-associated protein 5 (MAP1B): identification of distinct genes and their differential expression in developing brain.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Familial case of May-Hegglin anomaly associated with familial spastic paraplegia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Alzheimer's research moves to mice.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Familial spastic paraplegia-clinical and pathologic studies in a large kindred

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Neurofibrillary degeneration on Guam: frequency in Chamorros and non Chamorros with no known neurological disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Subcellular distribution of marker enzymes and of neurotoxic esterase in adult hen brain

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

28 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Is the transportation highway the right road for hereditary spastic paraplegia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Early-onset ALS with long-term survival associated with spastin gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Hereditary spastic paraplegia: clinical genetic study of 15 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Evidence of a third locus in X-linked recessive spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Cognitive performance in pure and complicated hereditary spastic paraparesis: a neuropsychological and neuroimaging study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Cellular function of neuropathy target esterase in lysophosphatidylcholine action

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Ichthyosis in the Sjögren-Larsson syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4045499

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

30 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1115-8

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

21 January 2018

1 reference

12 December 2020

The rumpshaker mutation in spastic paraplegia

1 reference

12 December 2020

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

1 reference

12 December 2020

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

1 reference

12 December 2020

Identification of a new form of autosomal dominant spastic paraplegia

1 reference

12 December 2020

An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene

1 reference

12 December 2020

1 reference

12 December 2020

The phenotype of "pure" autosomal dominant spastic paraplegia

1 reference

12 December 2020

Possible anticipation in hereditary spastic paraplegia type 4 (SPG4)

1 reference

12 December 2020

Membrane association of and critical residues in the catalytic domain of human neuropathy target esterase

1 reference

12 December 2020

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24

1 reference

12 December 2020

Strümpell Lorrain's familial spasmodic paraplegia. An anatomical and clinical review and report on a new case (author's transl)

1 reference

12 December 2020

The spinal canal in familial spastic paraplegia

1 reference

12 December 2020

Childhood-onset spastic paraplegia with NIPAL gene mutation

1 reference

12 December 2020

Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells

1 reference

12 December 2020

A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25

1 reference

12 December 2020

Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance

1 reference

12 December 2020

Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2

1 reference

12 December 2020

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

Hereditary spastic paraplegia associated with dopa-responsive parkinsonism

1 reference

12 December 2020

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

1 reference

12 December 2020

Hereditary (familial) spastic paraplegia

1 reference

12 December 2020

Magnetic resonance investigation of the upper spinal cord in pure and complicated hereditary spastic paraparesis

1 reference

12 December 2020

Loss of ERLIN2 function leads to juvenile primary lateral sclerosis

1 reference

12 December 2020

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

1 reference

12 December 2020

Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family

1 reference

12 December 2020

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype

1 reference

12 December 2020

Atlasin GTPases shape up ER networks

1 reference

12 December 2020

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

1 reference

12 December 2020

10.1007/S00401-013-1115-8

Identifiers

DOI

1 reference

PubMed ID

23897027

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference

PubMed ID

23897027