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The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients.
Alves De Siqueira Carvalho A, Antônio Troccoli Chieia M, Braga Farias I, Bulle Oliveira AS, Pinto WBVR, Souza PVS. Alves De Siqueira Carvalho A, et al. 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 …
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 …
[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 …