Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene-Reference-Cited by-同舟云学术

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Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Published:2002-09 Issue:3 Volume:71 Page:518-527
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Eymard-Pierre Eleonore,Lesca Gaetan,Dollet Sandra,Santorelli Filippo Maria,di Capua Matteo,Bertini Enrico,Boespflug-Tanguy Odile

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis);Ben Hamida;Brain,1990

2. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease;Casari;Cell,1998

3. Linkage of the gene for autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34;Chance;Am J Hum Genet,1998

4. “Pure” hereditary spastic paraplegias: the story becomes complicated;Figlewicz;Neurology,1999

5. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2;Hadano;Nat Genet,2001

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1. Preclinical alternative drug discovery programs for monogenic rare diseases. Should small molecules or gene therapy be used? The case of hereditary spastic paraplegias;Drug Discovery Today;2024-10

2. Conformational Dynamics and Molecular Characterization of Alsin MORN Monomer and Dimeric Assemblies;Proteins: Structure, Function, and Bioinformatics;2024-07-18

3. Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation;BMC Medical Genomics;2024-01-31

4. Primary Lateral Sclerosis: An Overview;Journal of Clinical Medicine;2024-01-19

5. Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis;Genes;2023-10-24

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