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Year | Number of Results |
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2004 | 1 |
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The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.
Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):16-24. doi: 10.1080/21678421.2021.1910306. Epub 2021 Nov 5.
Amyotroph Lateral Scler Frontotemporal Degener. 2022.
PMID: 34738851
Review.
There are three types of autosomal recessive disorders involving pathogenic variants in the ALS2 gene (OMIM*606352), infantile ascending hereditary spastic paraplegia (IAHSP), juvenile primary lateral sclerosis (JPLS) and juvenile amyotrophic lateral s …
There are three types of autosomal recessive disorders involving pathogenic variants in the ALS2 gene (OMIM*606352), infantile ascending her …
Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE.
Hadano S, et al.
Neurochem Int. 2007 Jul-Sep;51(2-4):74-84. doi: 10.1016/j.neuint.2007.04.010. Epub 2007 May 4.
Neurochem Int. 2007.
PMID: 17566607
Review.
ALS2 is a causative gene for a juvenile autosomal recessive form of motor neuron diseases (MNDs), including amyotrophic lateral sclerosis 2 (ALS2), juvenile primary lateral sclerosis, and infantile-onset ascending hereditary spastic paralysis. ...
ALS2 is a causative gene for a juvenile autosomal recessive form of motor neuron diseases (MNDs), including amyotrophic lateral sclerosis 2 …
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AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin.
Rossi Sebastiano M, Ermondi G, Hadano S, Caron G.
Rossi Sebastiano M, et al.
Drug Discov Today. 2022 Jun;27(6):1652-1660. doi: 10.1016/j.drudis.2021.12.018. Epub 2021 Dec 25.
Drug Discov Today. 2022.
PMID: 34958957
Review.
We focus on Alsin, a protein responsible for rare motor neuron diseases, such as infantile-onset ascending hereditary spastic paralysis (IAHSP) and juvenile primary lateral sclerosis (JPLS), and involved in some cases of amyotrophic lateral sclerosis ( …
We focus on Alsin, a protein responsible for rare motor neuron diseases, such as infantile-onset ascending hereditary spastic paralysis (IAH …
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[Recessive motor neuron diseases: mutations in the ALS2 gene and molecular pathogenesis for the upper motor neurodegeneration].
Ikeda JE.
Ikeda JE.
Rinsho Shinkeigaku. 2004 Nov;44(11):792-4.
Rinsho Shinkeigaku. 2004.
PMID: 15651293
Review.
Japanese.
ALS2 mutations also are causative for an autosomal recessive juvenile primary lateral sclerosis, and infantile-ascending hereditary spastic paralysis. ...
ALS2 mutations also are causative for an autosomal recessive juvenile primary lateral sclerosis, and infantile-a …
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