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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 4AIsabella Moroni, Michela Morbin, Micaela Milani, et al.
Cerebellum (London, England)|September 5, 2008
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesisCaterina Mariotti, Alfredo Brusco, Daniela Di Bella, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 18, 2007
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domainMatilde Laurà, Micaela Milani, Michela Morbin, et al.
Journal of the Peripheral Nervous System : JPNS|May 28, 2014
X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutationAnna Sagnelli, Giuseppe Piscosquito, Luisa Chiapparini, et al.
Science & Justice : Journal of the Forensic Science Society|October 6, 2016
Discussion on how to implement a verbal scale in a forensic laboratory: Benefits, pitfalls and suggestions to avoid misunderstandingsRaymond Marquis, Alex Biedermann, Liv Cadola, et al.
American Journal of Medical Genetics. Part A|August 23, 2019
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutationsMarta Gatti, Stefania Magri, Lorenzo Nanetti, et al.
Neuroscience Letters|May 2, 2018
Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patientsAlessia Mongelli, Lidia Sarro, Elena Rizzo, et al.
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