(Q28190263)

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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

scientific article (publication date: October 2001)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11586297%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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

1 reference

Europe PubMed Central

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11 November 2019

amyotrophic lateral sclerosis

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11 November 2019

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11 November 2019

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Yang Y

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11 November 2019

Hentati A

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11 November 2019

Dabbagh O

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11 November 2019

Sasaki T

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Hirano M

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Hung WY

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Ouahchi K

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Yan J

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11 November 2019

Azim AC

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Cole N

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Gascon G

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11 November 2019

Yagmour A

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11 November 2019

Ben-Hamida M

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11 November 2019

Pericak-Vance M

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11 November 2019

Hentati F

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11 November 2019

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1 October 2001

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11 November 2019

Nature Genetics

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2

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11 November 2019

160-165

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11 November 2019

Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria

1 reference

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7 January 2021

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El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

1 reference

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7 January 2021

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Clinicopathological features of primary lateral sclerosis are different from amyotrophic lateral sclerosis.

1 reference

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7 January 2021

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Primary lateral sclerosis: a case report

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Pure spastic paralysis of corticospinal origin

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7 January 2021

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Clinical and electrophysiological studies in primary lateral sclerosis

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7 January 2021

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Primary lateral sclerosis; a debated entity

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7 January 2021

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Primary lateral sclerosis. A clinical diagnosis reemerges

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Familial childhood primary lateral sclerosis with associated gaze paresis

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7 January 2021

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7 January 2021

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Motor-evoked responses in primary lateral sclerosis

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7 January 2021

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Primary lateral sclerosis in a child

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7 January 2021

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Infantile onset of hereditary ascending spastic paralysis with bulbar involvement

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Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

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Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

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Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

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Strategies for multilocus linkage analysis in humans

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7 January 2021

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Avoiding recomputation in linkage analysis.

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7 January 2021

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Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool.

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7 January 2021

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Pfam: multiple sequence alignments and HMM-profiles of protein domains

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7 January 2021

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Alignment of whole genomes

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7 January 2021

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SMART: identification and annotation of domains from signalling and extracellular protein sequences

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7 January 2021

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Signal-dependent membrane targeting by pleckstrin homology (PH) domains

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7 January 2021

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A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

1 reference

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7 January 2021

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Cell cycle. Some importin news about spindle assembly

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Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

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Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

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A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70.

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Ras and Rho GTPases: a family reunion

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Vps9p is a guanine nucleotide exchange factor involved in vesicle-mediated vacuolar protein transport

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis

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The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu,Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease

1 reference

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

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Identifiers

10.1038/NG1001-160

2 references

Consolidated OpenCitations Corpus – April 2017

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11 November 2019

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11586297%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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