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Neuromuscular Disorders : NMD
|
June 9, 2009
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A
Isabella Moroni, Michela Morbin, Micaela Milani, et al.
Cells
|
February 15, 2022
Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7<sup>K126R</sup> Mutation
Roberta Romano, Victoria Stefania Del Fiore, Paola Saveri, et al.
Epilepsia
|
May 1, 2014
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation
Laura Canafoglia, Michela Morbin, Vidmer Scaioli, et al.
Neurology
|
August 8, 2014
Brain fluorodeoxyglucose PET in adrenoleukodystrophy
Ettore Salsano, Giorgio Marotta, Valentina Manfredi, et al.
Journal of the Neurological Sciences
|
May 1, 2019
Neuropsychological features of adult form of Alexander disease
Lara Draghi, Ettore Salsano, Laura Farina, et al.
Journal of Neuromuscular Diseases
|
May 6, 2026
Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature
Elena Abati, Carola Rita Ferrari Aggradi, Stefania Magri, et al.
Journal of the Peripheral Nervous System : JPNS
|
October 19, 2011
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
Sinéad M Murphy, David N Herrmann, Michael P McDermott, et al.
Neurology
|
July 11, 2019
Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy
Silvia Fenu, Barbara Castellotti, Laura Farina, et al.
Neuromuscular Disorders : NMD
|
October 19, 2010
Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene
Chiara Marchesi, Claudia Ciano, Ettore Salsano, et al.
Annals of Neurology
|
March 9, 2023
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
Mary M Reilly, David N Herrmann, Davide Pareyson, et al.
Page
of 24
Search research articles
Search
Showing results (71-80 of 231) with videos related to
Sort By:
Page
of 24
Neuromuscular Disorders : NMD
|
June 9, 2009
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A
Isabella Moroni, Michela Morbin, Micaela Milani, et al.
Cells
|
February 15, 2022
Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7<sup>K126R</sup> Mutation
Roberta Romano, Victoria Stefania Del Fiore, Paola Saveri, et al.
Epilepsia
|
May 1, 2014
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation
Laura Canafoglia, Michela Morbin, Vidmer Scaioli, et al.
Neurology
|
August 8, 2014
Brain fluorodeoxyglucose PET in adrenoleukodystrophy
Ettore Salsano, Giorgio Marotta, Valentina Manfredi, et al.
Journal of the Neurological Sciences
|
May 1, 2019
Neuropsychological features of adult form of Alexander disease
Lara Draghi, Ettore Salsano, Laura Farina, et al.
Journal of Neuromuscular Diseases
|
May 6, 2026
Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature
Elena Abati, Carola Rita Ferrari Aggradi, Stefania Magri, et al.
Journal of the Peripheral Nervous System : JPNS
|
October 19, 2011
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
Sinéad M Murphy, David N Herrmann, Michael P McDermott, et al.
Neurology
|
July 11, 2019
Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy
Silvia Fenu, Barbara Castellotti, Laura Farina, et al.
Neuromuscular Disorders : NMD
|
October 19, 2010
Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene
Chiara Marchesi, Claudia Ciano, Ettore Salsano, et al.
Annals of Neurology
|
March 9, 2023
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
Mary M Reilly, David N Herrmann, Davide Pareyson, et al.
Page
of 24