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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 30, 2011
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in childrenAlessandra Terracciano, Florence Renaldo, Ginevra Zanni, et al.Biochemical and Biophysical Research Communications|October 27, 2011
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyMarzia Bianchi, Teresa Rizza, Daniela Verrigni, et al.Brain & Development|January 24, 2021
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosisMaria Margherita Mancardi, Claudia Nesti, Francesca Febbo, et al.Brain : a Journal of Neurology|September 14, 2013
Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15Chiara Vantaggiato, Claudia Crimella, Giovanni Airoldi, et al.American Journal of Medical Genetics. Part A|August 16, 2014
Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticusMichelangelo Mancuso, Claudia Nesti, Elena Caldarazzo Ienco, et al.Cerebellum (London, England)|September 17, 2024
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case ReportMartina De Riggi, Agnese De Giorgi, Luca Pollini, et al.Journal of Neurology|April 9, 2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvementRoberta Biancheri, Denise Cassandrini, Francesca Pinto, et al.Clinical Chemistry|September 8, 2011
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disordersGiulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, et al.Cells|September 14, 2024
<i>CCDC78</i>: Unveiling the Function of a Novel Gene Associated with Hereditary MyopathyDiego Lopergolo, Gian Nicola Gallus, Giuseppe Pieraccini, et al.Arquivos De Neuro-Psiquiatria|June 29, 2017
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South BrazilDaniela Burguêz, Camila Maria de Oliveira, Marcio Aloísio Bezerra Cavalcanti Rockenbach, et al.Pageof 20