scholarly journals Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome

Seizure ◽  
2004 ◽  
Vol 13 (8) ◽  
pp. 582-586 ◽  
Author(s):  
Pasquale Striano ◽  
Patrizia Boccella ◽  
Chiara Sarappa ◽  
Salvatore Striano
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Epileptic Syndrome ◽  
Progressive Myoclonic Epilepsy

scholarly journals A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran [Corrigendum]

2019 ◽  
Vol Volume 12 ◽  
pp. 235-236
Author(s):  
Reza Shervin Badv ◽  
Yalda Nilipour ◽  
Shahram Rahimi-Dehgolan ◽  
Ali Rashidi-Nezhad ◽  
Masood Ghahvechi Akbari
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

scholarly journals A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

2019 ◽  
Vol Volume 12 ◽  
pp. 155-159 ◽  
Author(s):  
Reza Shervin Badv ◽  
Yalda Nilipour ◽  
Shahram Rahimi-Dehgolan ◽  
Ali Rashidi-Nezhad ◽  
Masood Ghahvechi Akbari
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

Association of progressive myoclonic epilepsy and spinal muscular atrophy

1993 ◽  
Vol 9 (2) ◽  
pp. 147-150 ◽  
Author(s):  
Borivoj Marjanovic ◽  
Slobodanka Todorovic ◽  
Slobodan Dozic
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

scholarly journals Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

2012 ◽  
Vol 91 (1) ◽  
pp. 5-14 ◽  
Author(s):  
Jie Zhou ◽  
Marcel Tawk ◽  
Francesco Danilo Tiziano ◽  
Julien Veillet ◽  
Monica Bayes ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

scholarly journals Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations inASAH1

Epilepsia ◽  
2015 ◽  
Vol 56 (5) ◽  
pp. 692-698 ◽  
Author(s):  
Guido Rubboli ◽  
Pierangelo Veggiotti ◽  
Antonella Pini ◽  
Angela Berardinelli ◽  
Gaetano Cantalupo ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Rare Condition ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy

2015 ◽  
Vol 25 (12) ◽  
pp. 959-963 ◽  
Author(s):  
Joanna J. Gan ◽  
Virginie Garcia ◽  
Jane Tian ◽  
Michele Tagliati ◽  
Joseph E. Parisi ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Acid Ceramidase ◽  
Progressive Myoclonic Epilepsy ◽  
Ceramidase Deficiency

scholarly journals Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

2017 ◽  
Vol 38 (6) ◽  
pp. 611-614 ◽  
Author(s):  
Kristin D. Kernohan ◽  
Laure Frésard ◽  
Zachary Zappala ◽  
Taila Hartley ◽  
Kevin S. Smith ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Transcriptome Sequencing ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Whole Transcriptome Sequencing ◽  
Progressive Myoclonic Epilepsy ◽  
Whole Transcriptome

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1

2018 ◽  
Vol 164 ◽  
pp. 47-49 ◽  
Author(s):  
Edibe Pembegül Yildiz ◽  
Gözde Yesil ◽  
Gonca Bektas ◽  
Mine Caliskan ◽  
Burak Tatlı ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

2013 ◽  
Vol 86 (6) ◽  
pp. 558-563 ◽  
Author(s):  
D.A. Dyment ◽  
E. Sell ◽  
M.R. Vanstone ◽  
A.C. Smith ◽  
D. Garandeau ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Myoclonic Epilepsy ◽  
Clinical Genetic ◽  
Progressive Myoclonic Epilepsy ◽  
Biochemical Variability
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