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Journal of the Peripheral Nervous System : JPNS
|
May 28, 2016
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)
Giuseppe Piscosquito, Paola Saveri, Stefania Magri, et al.
European Journal of Neurology
|
May 9, 2025
Split Hand Syndrome in Charcot-Marie-Tooth Disease Type X1 (CMTX1): A Clinical, Neurophysiological, and Radiological Study
Alessandro Bertini, Marco Moscatelli, Claudia Ciano, et al.
Neurology
|
May 9, 2014
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus
Laura Canafoglia, Angela Robbiano, Davide Pareyson, et al.
Brain : a Journal of Neurology
|
May 10, 2014
PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker
Lucilla Nobbio, Davide Visigalli, Davide Radice, et al.
Journal of the Peripheral Nervous System : JPNS
|
March 19, 2008
Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A
Luca Padua, Michael E Shy, Irene Aprile, et al.
Pharmacological Research
|
October 13, 2006
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]
Davide Pareyson, Angelo Schenone, Gian Maria Fabrizi, et al.
Neurology
|
May 3, 2015
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
Anna Ardissone, Giuseppe Piscosquito, Andrea Legati, et al.
Brain : a Journal of Neurology
|
November 8, 2025
Charcot-Marie-Tooth-SORD: insights into pathology and pathophysiology from a human nerve biopsy series
Maike F Dohrn, Davide Pareyson, Chiara Pisciotta, et al.
Orphanet Journal of Rare Diseases
|
October 6, 2018
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, et al.
Journal of the Neurological Sciences
|
December 21, 2010
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu
Ettore Salsano, Roberto Fancellu, Giuseppe Di Fede, et al.
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of 24
Search research articles
Search
Showing results (81-90 of 231) with videos related to
Sort By:
Page
of 24
Journal of the Peripheral Nervous System : JPNS
|
May 28, 2016
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)
Giuseppe Piscosquito, Paola Saveri, Stefania Magri, et al.
European Journal of Neurology
|
May 9, 2025
Split Hand Syndrome in Charcot-Marie-Tooth Disease Type X1 (CMTX1): A Clinical, Neurophysiological, and Radiological Study
Alessandro Bertini, Marco Moscatelli, Claudia Ciano, et al.
Neurology
|
May 9, 2014
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus
Laura Canafoglia, Angela Robbiano, Davide Pareyson, et al.
Brain : a Journal of Neurology
|
May 10, 2014
PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker
Lucilla Nobbio, Davide Visigalli, Davide Radice, et al.
Journal of the Peripheral Nervous System : JPNS
|
March 19, 2008
Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A
Luca Padua, Michael E Shy, Irene Aprile, et al.
Pharmacological Research
|
October 13, 2006
A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]
Davide Pareyson, Angelo Schenone, Gian Maria Fabrizi, et al.
Neurology
|
May 3, 2015
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
Anna Ardissone, Giuseppe Piscosquito, Andrea Legati, et al.
Brain : a Journal of Neurology
|
November 8, 2025
Charcot-Marie-Tooth-SORD: insights into pathology and pathophysiology from a human nerve biopsy series
Maike F Dohrn, Davide Pareyson, Chiara Pisciotta, et al.
Orphanet Journal of Rare Diseases
|
October 6, 2018
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, et al.
Journal of the Neurological Sciences
|
December 21, 2010
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu
Ettore Salsano, Roberto Fancellu, Giuseppe Di Fede, et al.
Page
of 24