(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

Guy A Rouleau

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Patrick A Dion

series ordinal

object named as

Patrick A Dion

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21 August 2017

Hussein Daoud

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21 August 2017

publication date

13 October 2009

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21 August 2017

published in

Nature Reviews Genetics

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21 August 2017

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21 August 2017

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21 August 2017

page(s)

769-782

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

21 August 2017

cites work

1 reference

ALSOD: The Amyotrophic Lateral Sclerosis Online Database

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

1 reference

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

31 March 2020

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Current hypotheses for the underlying biology of amyotrophic lateral sclerosis

31 March 2020

1 reference

Mutant copper-zinc superoxide dismutase associated with amyotrophic lateral sclerosis binds to adenine/uridine-rich stability elements in the vascular endothelial growth factor 3'-untranslated region

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

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis

31 March 2020

1 reference

Glial cells as intrinsic components of non-cell-autonomous neurodegenerative disease

31 March 2020

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Amyotrophic lateral sclerosis associated with mutations in the CuZn 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

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

31 March 2020

1 reference

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family

31 March 2020

1 reference

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

31 March 2020

1 reference

A catalogue of splice junction sequences

31 March 2020

1 reference

Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation

31 March 2020

1 reference

Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?

31 March 2020

1 reference

An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS.

31 March 2020

1 reference

Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis

31 March 2020

1 reference

Therapeutic effects of immunization with mutant superoxide dismutase in mice models of amyotrophic lateral sclerosis

31 March 2020

1 reference

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

31 March 2020

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

31 March 2020

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Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

31 March 2020

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

31 March 2020

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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

31 March 2020

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Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

31 March 2020

1 reference

Rethinking ALS: the FUS about TDP-43.

31 March 2020

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High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

31 March 2020

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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

31 March 2020

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TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing

31 March 2020

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Recent advances in the genetics of amyotrophic lateral sclerosis

31 March 2020

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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

31 March 2020

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

31 March 2020

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

31 March 2020

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

31 March 2020

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Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

31 March 2020

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Mutations in FUS cause FALS and SALS in French and French Canadian populations

31 March 2020

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Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.

31 March 2020

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

31 March 2020

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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

31 March 2020

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Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

31 March 2020

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Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

31 March 2020

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AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

31 March 2020

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Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis

31 March 2020

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Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

31 March 2020

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Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis

31 March 2020

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Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

31 March 2020

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A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

31 March 2020

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Angiogenin protects motoneurons against hypoxic injury.

31 March 2020

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Mutant dynactin in motor neuron disease.

31 March 2020

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Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

31 March 2020

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

31 March 2020

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31 March 2020

Frontotemporal dementia

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Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.

31 March 2020

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

31 March 2020

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

31 March 2020

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Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

31 March 2020

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Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

31 March 2020

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Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

31 March 2020

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Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

31 March 2020

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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

31 March 2020

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A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

31 March 2020

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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

31 March 2020

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

31 March 2020

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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

31 March 2020

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Clinicopathologic features of frontotemporal dementia with progranulin sequence variation

31 March 2020

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Genetics of familial amyotrophic lateral sclerosis

31 March 2020

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A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

31 March 2020

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Genome-wide association studies for complex traits: consensus, uncertainty and challenges

31 March 2020

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Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

31 March 2020

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Whole-genome analysis of sporadic amyotrophic lateral sclerosis

31 March 2020

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ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

31 March 2020

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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

31 March 2020

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A genome-wide association study of sporadic ALS in a homogenous Irish population.

31 March 2020

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Screening for replication of genome-wide SNP associations in sporadic ALS

31 March 2020

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A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

31 March 2020

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Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

31 March 2020

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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

31 March 2020

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Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis

31 March 2020

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High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

31 March 2020

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Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

31 March 2020

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Analysis of genome-wide copy number variation in Irish and Dutch ALS populations

31 March 2020

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

31 March 2020

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The axonal transport of mitochondria.

31 March 2020

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Sumoylation in axons triggers retrograde transport of the RNA-binding protein La.

31 March 2020

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A second leaky splice-site mutation in the spastin gene

31 March 2020

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Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia

31 March 2020

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

31 March 2020

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Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B

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

31 March 2020

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Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

31 March 2020

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

31 March 2020

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

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

31 March 2020

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

31 March 2020

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

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

31 March 2020

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A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

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

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

31 March 2020

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

31 March 2020

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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

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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

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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

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

31 March 2020

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Variation in alternative splicing across human tissues

31 March 2020

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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

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

31 March 2020

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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

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

31 March 2020

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12 December 2020

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

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12 December 2020

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

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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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