Genetics of motor neuron disorders: new insights into pathogenic mechanisms (Q37613452)

21 August 2017

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title

Genetics of motor neuron disorders: new insights into pathogenic mechanisms (English)

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21 August 2017

3

Guy A Rouleau

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Patrick A Dion

series ordinal

1

object named as

Patrick A Dion

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21 August 2017

2

Hussein Daoud

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21 August 2017

13 October 2009

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21 August 2017

Nature Reviews Genetics

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21 August 2017

10

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21 August 2017

769-782

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21 August 2017

11

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https://scigraph.springernature.com/pub.10.1038/nrg2680

21 August 2017

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

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SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

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

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

31 March 2020

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31 March 2020

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

31 March 2020

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

31 March 2020

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A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

31 March 2020

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NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter

31 March 2020

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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

31 March 2020

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

31 March 2020

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31 March 2020

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

31 March 2020

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31 March 2020

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Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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31 March 2020

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31 March 2020

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Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

31 March 2020

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

31 March 2020

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

31 March 2020

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HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

31 March 2020

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

31 March 2020

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

31 March 2020

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Structural and functional evolution of the L1 family: are four adhesion molecules better than one?

31 March 2020

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31 March 2020

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

31 March 2020

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

31 March 2020

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The acetyl-CoA transporter family SLC33

31 March 2020

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Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter

31 March 2020

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22?

31 March 2020

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

31 March 2020

1 reference

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

31 March 2020

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Neuropathy target esterase gene mutations cause motor neuron disease

31 March 2020

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Clinical features that distinguish PLS, upper motor neuron-dominant ALS, and typical ALS.

31 March 2020

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A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1.

31 March 2020

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A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family

31 March 2020

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The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

31 March 2020

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

31 March 2020

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SMN oligomerization defect correlates with spinal muscular atrophy severity

31 March 2020

1 reference

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

31 March 2020

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An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

31 March 2020

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A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

31 March 2020

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Identification and characterization of a spinal muscular atrophy-determining gene

31 March 2020

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

31 March 2020

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Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy

31 March 2020

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Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals

31 March 2020

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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

31 March 2020

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Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

31 March 2020

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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway

31 March 2020

1 reference

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

31 March 2020

1 reference

Variation in alternative splicing across human tissues

31 March 2020

1 reference

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

31 March 2020

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ALS: a disease of motor neurons and their nonneuronal neighbors

31 March 2020

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Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

31 March 2020

1 reference

Fine structural study of neurofibrillary changes in a family with amyotrophic lateral sclerosis

31 March 2020

1 reference

Isolation of various forms of sterol beta-D-glucoside from the seed of Cycas circinalis: neurotoxicity and implications for ALS-parkinsonism dementia complex

31 March 2020

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Occurrence of amyotrophic lateral sclerosis among Gulf War veterans

31 March 2020

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Association between occupational exposure to power frequency electromagnetic fields and amyotrophic lateral sclerosis: a review

31 March 2020

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Analysis of factors that modify susceptibility and rate of progression in amyotrophic lateral sclerosis (ALS)

31 March 2020

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Motor neuron disorder simulating ALS induced by chronic inhalation of pyrethroid insecticides

31 March 2020

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Prospective study of chemical exposures and amyotrophic lateral sclerosis

31 March 2020

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Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players

31 March 2020

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ALS in Italian professional soccer players: the risk is still present and could be soccer-specific.

31 March 2020

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Amyotrophic lateral sclerosis and sports: a case-control study

31 March 2020

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Head injury and amyotrophic lateral sclerosis

31 March 2020

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Prospective study of cigarette smoking and amyotrophic lateral sclerosis

31 March 2020

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Implication of abnormal epigenetic patterns for human diseases

31 March 2020

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Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases

31 March 2020

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An epigenetic analysis of SOD1 and VEGF in ALS.

31 March 2020

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Are metallothionein genes silenced in ALS?

31 March 2020

1 reference

DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients

31 March 2020

1 reference

12 December 2020

The importance of the SMN genes in the genetics of sporadic ALS.

1 reference

12 December 2020

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

1 reference

12 December 2020

Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis

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12 December 2020

Identifiers

DOI

10.1038/NRG2680

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21 August 2017

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PubMed ID

19823194