Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.

Karimzadeh, Parvaneh; Najmabadi, Hossein; Lochmuller, Hanns; Babaee, Marzieh; Dehdahsi, Shima; Miryounesi, Mohammad; Amirsalari, Susan; Rayegani, Seyed Mansoor; Tonekaboni, Seyed Hassan

Karimzadeh, Parvaneh; Najmabadi, Hossein; Lochmuller, Hanns; Babaee, Marzieh; Dehdahsi, Shima; Miryounesi, Mohammad; Amirsalari, Susan; Rayegani, Seyed Mansoor; Tonekaboni, Seyed Hassan.

Affiliation

Karimzadeh P; Pediatric Neurology Reaseach Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Najmabadi H; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Lochmuller H; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; Depar
Babaee M; Physical Medicine & Rehabilitation Research Center, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1989934148, Iran. Electronic address: rambabaee@yahoo.com.
Dehdahsi S; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Miryounesi M; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Amirsalari S; School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Rayegani SM; Physical Medicine & Rehabilitation Research Center, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1989934148, Iran.
Tonekaboni SH; Pediatric Neurology Reaseach Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Neuromuscul Disord ; 32(10): 806-810, 2022 10.

Article de En | MEDLINE | ID: mdl-36309462

Sujet(s)
Mots clés

ASAH1 gene; Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME); Treatment

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Amyotrophie spinale / Maladies du motoneurone / Épilepsies myocloniques progressives Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Humans Langue: En Journal: Neuromuscul Disord Sujet du journal: NEUROLOGIA Année: 2022 Type de document: Article Pays d'affiliation: Iran Pays de publication: Royaume-Uni

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