Spinal muscular atrophy type 2 patient who survived 61  years: an autopsy case report

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(2020) Emma Tabe Eko Niba et al.   BRAIN & DEVELOPMENT

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

(2019) Daniel M. Ramos et al.   JOURNAL OF CLINICAL INVESTIGATION

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

(2017) Ingrid E. C. Verhaart et al.   Orphanet Journal of Rare Diseases

Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations

(2016) Yoriko Noguchi et al.   PEDIATRIC NEUROLOGY

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

(2015) Brian N. Harding et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Spinal Muscular Atrophy

(2015) Stephen J. Kolb et al.   NEUROLOGIC CLINICS

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

(2015) Richard Finkel et al.   NEUROMUSCULAR DISORDERS

New insights into the pathogenesis of spinal muscular atrophy

(2010) Yasushi Ito et al.   BRAIN & DEVELOPMENT

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy

(2008) Mohd Shamshudin Watihayati et al.   BRAIN & DEVELOPMENT

An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)

(2008) Satoshi Kuru et al.   NEUROPATHOLOGY

SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy

(2008) Van Khanh Tran et al.   PEDIATRICS INTERNATIONAL