(Q36573336)

15 August 2017

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title

Molecular biology of amyotrophic lateral sclerosis: insights from genetics (English)

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amyotrophic lateral sclerosis

15 August 2017

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2

Robert H Brown

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15 August 2017

Piera Pasinelli

1

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PubMed ID

16924260

15 August 2017

language of work or name

English

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publication date

1 September 2006

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Nature Reviews Neuroscience

15 August 2017

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15 August 2017

7

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15 August 2017

9

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15 August 2017

710-723

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https://scigraph.springernature.com/pub.10.1038/nrn1971

15 August 2017

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cites work

Incidence of amyotrophic lateral sclerosis in three counties in western Washington state

1 reference

From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS

31 March 2020

1 reference

An ALS-like syndrome with new HIV infection and complete response to antiretroviral therapy

31 March 2020

1 reference

Detection of serum reverse transcriptase activity in patients with ALS and unaffected blood relatives.

31 March 2020

1 reference

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

31 March 2020

1 reference

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

1 reference

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

31 March 2020

1 reference

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

31 March 2020

1 reference

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

31 March 2020

1 reference

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

31 March 2020

1 reference

Mutant dynactin in motor neuron disease.

31 March 2020

1 reference

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

31 March 2020

1 reference

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

31 March 2020

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Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis

31 March 2020

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A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

31 March 2020

1 reference

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

31 March 2020

1 reference

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

31 March 2020

1 reference

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

31 March 2020

1 reference

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

31 March 2020

1 reference

Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.

31 March 2020

1 reference

Copper and zinc levels in familial amyotrophic lateral sclerosis patients with CuZnSOD gene mutations

31 March 2020

1 reference

Determinants of rapid disease progression in ALS

31 March 2020

1 reference

Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.

31 March 2020

1 reference

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

31 March 2020

1 reference

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.

31 March 2020

1 reference

Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor

31 March 2020

1 reference

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

31 March 2020

1 reference

Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants

31 March 2020

1 reference

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

31 March 2020

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Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

31 March 2020

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Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress

31 March 2020

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Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

31 March 2020

1 reference

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

31 March 2020

1 reference

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

31 March 2020

1 reference

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

31 March 2020

1 reference

Motor neuron disease in a patient with a mitochondrial tRNAIle mutation

31 March 2020

1 reference

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

31 March 2020

1 reference

Lack of association between VEGF polymorphisms and ALS in a Dutch population

31 March 2020

1 reference

A novel candidate region for ALS on chromosome 14q11.2.

31 March 2020

1 reference

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

31 March 2020

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Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

31 March 2020

1 reference

Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)

31 March 2020

1 reference

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

31 March 2020

1 reference

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

31 March 2020

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Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

31 March 2020

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31 March 2020

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Toxic mutants in Charcot's sclerosis

31 March 2020

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ALS, SOD and peroxynitrite

31 March 2020

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Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis

31 March 2020

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Induction of nitric oxide-dependent apoptosis in motor neurons by zinc-deficient superoxide dismutase

31 March 2020

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Protein oxidative damage in a transgenic mouse model of familial amyotrophic lateral sclerosis

31 March 2020

1 reference

Elevated free nitrotyrosine levels, but not protein-bound nitrotyrosine or hydroxyl radicals, throughout amyotrophic lateral sclerosis (ALS)-like disease implicate tyrosine nitration as an aberrant in vivo property of one familial ALS-linked superox

31 March 2020

1 reference

Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

31 March 2020

1 reference

Human Cu/Zn superoxide dismutase (SOD1) overexpression in mice causes mitochondrial vacuolization, axonal degeneration, and premature motoneuron death and accelerates motoneuron disease in mice expressing a familial amyotrophic lateral sclerosis mut

31 March 2020

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Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria

31 March 2020

1 reference

Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase

31 March 2020

1 reference

Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature

31 March 2020

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Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis

31 March 2020

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Is ALS caused by an altered oxidative activity of mutant superoxide dismutase?

31 March 2020

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Disulphide-reduced superoxide dismutase-1 in CNS of transgenic amyotrophic lateral sclerosis models

31 March 2020

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Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis.

31 March 2020

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High molecular weight complexes of mutant superoxide dismutase 1: age-dependent and tissue-specific accumulation

31 March 2020

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An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis.

31 March 2020

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Huntingtin and mutant SOD1 form aggregate structures with distinct molecular properties in human cells

31 March 2020

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Rapid disease progression correlates with instability of mutant SOD1 in familial ALS

31 March 2020

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Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants

31 March 2020

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Mutant Cu/Zn-superoxide dismutase proteins have altered solubility and interact with heat shock/stress proteins in models of amyotrophic lateral sclerosis

31 March 2020

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Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria

31 March 2020

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Programmed cell death in amyotrophic lateral sclerosis

31 March 2020

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Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS

31 March 2020

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Caspase-1 is activated in neural cells and tissue with amyotrophic lateral sclerosis-associated mutations in copper-zinc superoxide dismutase.

31 March 2020

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Caspase-1 and -3 are sequentially activated in motor neuron death in Cu,Zn superoxide dismutase-mediated familial amyotrophic lateral sclerosis

31 March 2020

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Delaying caspase activation by Bcl-2: A clue to disease retardation in a transgenic mouse model of amyotrophic lateral sclerosis

31 March 2020

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Functional Role of Caspase-1 and Caspase-3 in an ALS Transgenic Mouse Model

31 March 2020

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Bax and Bcl-2 interaction in a transgenic mouse model of familial amyotrophic lateral sclerosis

31 March 2020

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Mitochondrial involvement in amyotrophic lateral sclerosis: trigger or target?

31 March 2020

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Caspase-3 cleaves and inactivates the glutamate transporter EAAT2.

31 March 2020

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Recruitment of the mitochondrial-dependent apoptotic pathway in amyotrophic lateral sclerosis

31 March 2020

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Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells

31 March 2020

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Immune reactivity in a mouse model of familial ALS correlates with disease progression

31 March 2020

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Cytokine upregulation in a murine model of familial amyotrophic lateral sclerosis.

31 March 2020

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Increased expression of the pro-inflammatory enzyme cyclooxygenase-2 in amyotrophic lateral sclerosis.

31 March 2020

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Primary glia expressing the G93A-SOD1 mutation present a neuroinflammatory phenotype and provide a cellular system for studies of glial inflammation

31 March 2020

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Motoneuron death triggered by a specific pathway downstream of Fas. potentiation by ALS-linked SOD1 mutations.

31 March 2020

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Chronic activation in presymptomatic amyotrophic lateral sclerosis (ALS) mice of a feedback loop involving Fas, Daxx, and FasL.

31 March 2020

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Spinal cord endoplasmic reticulum stress associated with a microsomal accumulation of mutant superoxide dismutase-1 in an ALS model

31 March 2020

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Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis

31 March 2020

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The ultrastructure of intramuscular nerves in amyotrophic lateral sclerosis

31 March 2020

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Ultrastructure of atrophic muscle in amyotrophic lateral sclerosis

31 March 2020

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Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis

31 March 2020

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Ultrastructural evidence for altered calcium in motor nerve terminals in amyotropic lateral sclerosis

31 March 2020

1 reference

ALS-associated mutant SOD1G93A causes mitochondrial vacuolation by expansion of the intermembrane space and by involvement of SOD1 aggregation and peroxisomes

31 March 2020

1 reference

Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1

31 March 2020

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Early vacuolization and mitochondrial damage in motor neurons of FALS mice are not associated with apoptosis or with changes in cytochrome oxidase histochemical reactivity.

31 March 2020

1 reference

Ultrastructural study of mitochondria in the spinal cord of transgenic mice with a G93A mutant SOD1 gene

31 March 2020

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Neurodegeneration induced by complex I inhibition in a cellular model of familial amyotrophic lateral sclerosis

31 March 2020

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Mitochondrial electron transport chain complex dysfunction in a transgenic mouse model for amyotrophic lateral sclerosis

31 March 2020

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Neural mitochondrial Ca2+ capacity impairment precedes the onset of motor symptoms in G93A Cu/Zn-superoxide dismutase mutant mice

31 March 2020

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Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis

31 March 2020

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Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis.

31 March 2020

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Minocycline inhibits cytochrome c release and delays progression of amyotrophic lateral sclerosis in mice

31 March 2020

1 reference

Mutant Cu, Zn superoxide dismutase that causes motoneuron degeneration is present in mitochondria in the CNS

31 March 2020

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Mutated human SOD1 causes dysfunction of oxidative phosphorylation in mitochondria of transgenic mice.

31 March 2020

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Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria.

31 March 2020

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Amyotrophic lateral sclerosis: a proposed mechanism

31 March 2020

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Mitochondrial localization of mutant superoxide dismutase 1 triggers caspase-dependent cell death in a cellular model of familial amyotrophic lateral sclerosis

31 March 2020

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Overloading of stable and exclusion of unstable human superoxide dismutase-1 variants in mitochondria of murine amyotrophic lateral sclerosis models

31 March 2020

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Impairment of fast axonal transport in the proximal axons of anterior horn neurons in amyotrophic lateral sclerosis

31 March 2020

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Impairment of axonal transport in the axon hillock and the initial segment of anterior horn neurons in transgenic mice with a G93A mutant SOD1 gene

31 March 2020

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Neurofilaments and orthograde transport are reduced in ventral root axons of transgenic mice that express human SOD1 with a G93A mutation

31 March 2020

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Axonal transport of mutant superoxide dismutase 1 and focal axonal abnormalities in the proximal axons of transgenic mice.

31 March 2020

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Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons

31 March 2020

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Impaired retrograde axonal transport of adenovirus-mediated E. coli LacZ gene in the mice carrying mutant SOD1 gene

31 March 2020

1 reference

Defective neurofilament transport in mouse models of amyotrophic lateral sclerosis: a review

31 March 2020

1 reference

Mutant superoxide dismutase disrupts cytoplasmic dynein in motor neurons

31 March 2020

1 reference

An integrated genetic, radiation hybrid, physical and transcription map of a region of distal mouse chromosome 12, including an imprinted locus and the 'Legs at odd angles' (Loa) mutation

31 March 2020

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Mutations in dynein link motor neuron degeneration to defects in retrograde transport

31 March 2020

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Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

31 March 2020

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A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice

31 March 2020

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A dynein mutation attenuates motor neuron degeneration in SOD1(G93A) mice

31 March 2020

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The neuroprotective factor Wlds does not attenuate mutant SOD1-mediated motor neuron disease

31 March 2020

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Alzheimer's presenilin 1 mutations impair kinesin-based axonal transport

31 March 2020

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Fast axonal transport misregulation and Alzheimer's disease

31 March 2020

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Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro

31 March 2020

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Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

31 March 2020

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Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis

31 March 2020

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Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis

31 March 2020

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Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis

31 March 2020

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Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex

31 March 2020

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Excitatory amino acid transporter 5, a retinal glutamate transporter coupled to a chloride conductance

31 March 2020

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An excitatory amino-acid transporter with properties of a ligand-gated chloride channel

31 March 2020

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SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter

31 March 2020

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Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS).

31 March 2020

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Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis

31 March 2020

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Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis

31 March 2020

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Amyotrophic lateral sclerosis-linked glutamate transporter mutant has impaired glutamate clearance capacity

31 March 2020

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The role of calcium-binding proteins in selective motoneuron vulnerability in amyotrophic lateral sclerosis

31 March 2020

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Calcium-permeable alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors: a molecular determinant of selective vulnerability in amyotrophic lateral sclerosis.

31 March 2020

1 reference

Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes

31 March 2020

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Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment.

31 March 2020

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Restricted expression of G86R Cu/Zn superoxide dismutase in astrocytes results in astrocytosis but does not cause motoneuron degeneration

31 March 2020

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Wild-Type Nonneuronal Cells Extend Survival of SOD1 Mutant Motor Neurons in ALS Mice

31 March 2020

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Onset and progression in inherited ALS determined by motor neurons and microglia

31 March 2020

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Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA

31 March 2020

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Identification and characterization of a spinal muscular atrophy-determining gene

31 March 2020

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A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

31 March 2020

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

31 March 2020

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Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene

31 March 2020

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Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

31 March 2020

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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

31 March 2020

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

31 March 2020

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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

31 March 2020

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

31 March 2020

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

31 March 2020

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

31 March 2020

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N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

31 March 2020

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Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

31 March 2020

1 reference

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

31 March 2020

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Molecular genetics of distal hereditary motor neuropathies

31 March 2020

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Mitochondrial depolarization in glutamate-stimulated neurons: an early signal specific to excitotoxin exposure

31 March 2020

1 reference

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

31 March 2020

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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

31 March 2020

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

31 March 2020

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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

31 March 2020

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

31 March 2020

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

31 March 2020

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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

31 March 2020

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Periaxin mutations cause recessive Dejerine-Sottas neuropathy

31 March 2020

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

31 March 2020

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Therapeutic targets for amyotrophic lateral sclerosis: current treatments and prospects for more effective therapies

31 March 2020

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Retrograde viral delivery of IGF-1 prolongs survival in a mouse ALS model.

31 March 2020

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Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS.

31 March 2020

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Silencing mutant SOD1 using RNAi protects against neurodegeneration and extends survival in an ALS model

31 March 2020

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Therapeutic gene silencing in neurological disorders, using interfering RNA.

31 March 2020

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RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells

31 March 2020

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Virus-delivered small RNA silencing sustains strength in amyotrophic lateral sclerosis

31 March 2020

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Antisense oligonucleotide therapy for neurodegenerative disease.

31 March 2020

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

31 March 2020

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Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

31 March 2020

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

31 March 2020

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Tissue-specific splicing mutation in acute intermittent porphyria.

31 March 2020

1 reference

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

31 March 2020

1 reference

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

31 March 2020

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The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

31 March 2020

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Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

31 March 2020

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Metachromatic leukodystrophy caused by a partial cerebroside sulfatase

31 March 2020

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Identification of PAHX, a Refsum disease gene

31 March 2020

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Familial dysautonomia is caused by mutations of the IKAP gene

31 March 2020

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Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

31 March 2020

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

31 March 2020

1 reference

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

31 March 2020

1 reference

Fine assignment of beta-hexosaminidase A alpha-subunit on 15q23-q24 by high resolution in situ hybridization

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

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Familial spastic paraparesis: an adrenoleukodystrophy phenotype?

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRN1971

1 reference

15 August 2017

1 reference

PubMed ID

16924260