Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings
CE Pringle, R Nelson, W Miller, R Kothary… - Acta Neuropathologica …, 2020 - Springer
Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor
neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg–Welander …
neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg–Welander …
Spinal Muscular Atrophy Type 3, Kugelberg-Welander Disease
C Angelini, C Angelini - Genetic Neuromuscular Disorders: A Case-Based …, 2014 - Springer
Spinal muscular atrophy type 3 (SMA3), or Kugelberg-Welander disease, is a relatively mild
form of spinal muscular atrophy characterized by proximal muscle weakness and hypotonia …
form of spinal muscular atrophy characterized by proximal muscle weakness and hypotonia …
An autopsy case of spinal muscular atrophy type III (Kugelberg‐Welander disease)
S Kuru, M Sakai, M Konagaya, M Yoshida… - …, 2009 - Wiley Online Library
We report an autopsy case of a 67‐year‐old man clinicogenetically diagnosed as having
spinal muscular atrophy (SMA) type III (Kugelberg‐Welander disease), showing slowly …
spinal muscular atrophy (SMA) type III (Kugelberg‐Welander disease), showing slowly …
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)
E Salort-Campana, S Quijano-Roy - Archives de Pédiatrie, 2020 - Elsevier
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically
presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once …
presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once …
Atypical presentations of spinal muscular atrophy type III (Kugelberg–Welander disease)
Spinal muscular atrophy type III (SMA III, Kugelberg–Welander disease) typically presents
with symmetric proximal weakness, areflexia, and hypotonia. We present four children with …
with symmetric proximal weakness, areflexia, and hypotonia. We present four children with …
Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report
M Yamadera, T Saito, M Shinohara, H Nishio… - …, 2022 - Wiley Online Library
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by progressive muscle weakness due to degeneration of lower motor neurons …
characterized by progressive muscle weakness due to degeneration of lower motor neurons …
Spinal muscular atrophy: present state
H Schmalbruch, G Haase - Brain pathology, 2001 - Wiley Online Library
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by
homozygous deletions or mutations in the SMN1 gene on Chr. 5q13. SMA spans from …
homozygous deletions or mutations in the SMN1 gene on Chr. 5q13. SMA spans from …
Neonatal muscular spinal atrophy: a case report
P Pavone, M Velardita, T Trigilia, G Luca… - La Pediatria Medica e …, 2004 - europepmc.org
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease characterized by diffuse
proximal and distal weakness due to deletions of the survival motor neuron (SMN) gene …
proximal and distal weakness due to deletions of the survival motor neuron (SMN) gene …
[HTML][HTML] Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)
MG Madakshira, S Singla, K Gupta, S Zahan… - Autopsy and Case …, 2020 - SciELO Brasil
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a
large group of genetic disorders characterized by slowly progressive degeneration of lower …
large group of genetic disorders characterized by slowly progressive degeneration of lower …
Sixty years of spinal muscular atrophy: a personal odyssey
V Dubowitz - Sumner CJ, Paushkin S, Ko C. Spinal muscular …, 2016 - books.google.com
We live in exciting times, and it has been a tremendous privilege to witness the remarkable
growth in interest in the neuromuscular disorders over the past half-century and the quantum …
growth in interest in the neuromuscular disorders over the past half-century and the quantum …