SOD1 mutations in adult‐onset distal spinal muscular atrophy-Reference-Cited by-同舟云学术

SOD1 mutations in adult‐onset distal spinal muscular atrophy

Published:2020-07-28 Issue:11 Volume:27 Page:
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

de Fuenmayor‐Fernández de la Hoz Carlos Pablo¹^ORCID,Hernández‐Laín Aurelio²³,Olivé Montse⁴⁵⁶,Arteche López Ana⁷,Esteban Jesús¹,Domínguez‐González Cristina¹³⁸^ORCID

Affiliation:

1. Neuromuscular Unit Department of Neurology 12 de Octubre University Hospital MadridSpain

2. Neuromuscular Unit Department of Pathology (Neuropathology) 12 de Octubre University Hospital MadridSpain

3. Hospital 12 de Octubre Research Institute (imas12) MadridSpain

4. Neuromuscular Unit Department of Neurology Bellvitge Hospital BarcelonaSpain

5. Department of Pathology Bellvitge Hospital BarcelonaSpain

6. IDIBELL Research Institute BarcelonaSpain

7. Department of Genetics 12 de Octubre University Hospital MadridSpain

8. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III Madrid Spain

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14426

Reference9 articles.

1. SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum

2. D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation

3. Rimmed vacuoles with β-amyloid and ubiquitinated filamentous deposits in the muscles of patients with long-standing denervation (postpoliomyelitis muscular atrophy): similarities with inclusion body myositis

4. Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

5. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

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1. A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2024-05-08

2. Response to: SOD1 mutations in adult‐onset distal spinal muscular atrophy;European Journal of Neurology;2020-07-28