Molecular aspects of hereditary spastic paraplegia (Q38196130)

30 August 2017

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title

Molecular aspects of hereditary spastic paraplegia (English)

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30 August 2017

3

Guy A Rouleau

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Patrick A Dion

series ordinal

2

object named as

Patrick A Dion

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30 August 2017

1

Anne Noreau

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30 August 2017

language of work or name

English

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publication date

11 March 2014

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Experimental Cell Research

30 August 2017

published in

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30 August 2017

volume

325

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30 August 2017

issue

1

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30 August 2017

page(s)

18-26

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Cellular pathways of hereditary spastic paraplegia

30 August 2017

cites work

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Autosomal recessive forms of hereditary motor and sensory neuropathy

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Genetics of motor neuron disorders: new insights into pathogenic mechanisms

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Urban planning of the endoplasmic reticulum (ER): how diverse mechanisms segregate the many functions of the ER.

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

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

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

7 January 2021

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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

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

7 January 2021

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

7 January 2021

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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

7 January 2021

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Neuropathy target esterase gene mutations cause motor neuron disease

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Genetic polymorphism of CYP2U1, a cytochrome P450 involved in fatty acids hydroxylation

7 January 2021

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Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

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Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

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The rumpshaker mutation in spastic paraplegia

7 January 2021

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

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A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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The fifth adaptor protein complex

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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10.1016/J.YEXCR.2014.02.021

7 January 2021

Identifiers

DOI

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30 August 2017

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