Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology (Q28081453)

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English	Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology	scientific article

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scholarly article

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2 references

22 April 2019

25 April 2019

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology (English)

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genetic disease

2 references

22 April 2019

25 April 2019

2 references

22 April 2019

25 April 2019

object named as

Jeanette Koht

2

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Giovanni Stevanin

object named as

Giovanni Stevanin

3

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author name string

Christelle Tesson

1

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language of work or name

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publication date

June 2015

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1 June 2015

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22 April 2019

25 April 2019

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22 April 2019

25 April 2019

134

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511-38

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6

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copyright license

Creative Commons Attribution 4.0 International

11 March 2015

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April 2022 Public Data File from Crossref

copyright status

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https://scigraph.springernature.com/pub.10.1007/s00439-015-1536-7

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Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Neuropathy target esterase gene mutations cause motor neuron disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Central nervous system dysfunction in a mouse model of FA2H deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

20 March 2017

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

7 April 2017

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

7 April 2017

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Cholestenoic acids regulate motor neuron survival via liver X receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

The trials and tubule-ations of Rab6 involvement in Golgi-to-ER retrograde transport.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Motor protein mutations cause a new form of hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Neuronal expression of GalNAc transferase is sufficient to prevent the age-related neurodegenerative phenotype of complex ganglioside-deficient mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

OnabotulinumtoxinA is effective in patients with urinary incontinence due to neurogenic detrusor overactivity [corrected] regardless of concomitant anticholinergic use or neurologic etiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

A conserved role for atlastin GTPases in regulating lipid droplet size

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Untangling the web: mechanisms underlying ER network formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

A critical role for the cholesterol-associated proteolipids PLP and M6B in myelination of the central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Cellular pathways of hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Oxysterols as biomarkers in neurodegenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Fatty acid 2-Hydroxylation in mammalian sphingolipid biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Recent advances in the genetics of spastic paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

The hereditary spastic paraplegias: nine genes and counting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

F3/contactin, a neuronal cell adhesion molecule implicated in axogenesis and myelination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Methionyl-tRNA synthetase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Recent advances in hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Classification of the hereditary ataxias and paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

29 September 2017

Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

2 June 2018

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

2 June 2018

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

2 June 2018

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

2 June 2018

Neurologic findings in vitamin E deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

28 July 2018

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Axonal transport deficit in a KIF5A( -/- ) mouse model

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

A novel GBA2 gene missense mutation in spastic ataxia.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1536-7

21 January 2018

A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4424374

27 November 2018

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Japan Spastic Paraplegia Research Consortium (JASPAC)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gangliosides are essential in the protection of inflammation and neurodegeneration via maintenance of lipid rafts: elucidation by a series of ganglioside-deficient mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exome sequencing reveals SPG11 mutations causing juvenile ALS

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta-glucosidase 2 knockout mice with increased glucosylceramide show impaired liver regeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of ERLIN2 function leads to juvenile primary lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

1 reference

https://pubmed.ncbi.nlm.nih.gov/25758904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-015-1536-7

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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