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Neuromuscular Disorders : NMD|January 16, 2010
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliabilityA M Glanzman, E Mazzone, M Main, et al.
European Journal of Neurology|March 18, 2011
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-SaguenayE M Vingolo, R Di Fabio, S Salvatore, et al.
Cerebellum (London, England)|June 5, 2021
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital AtaxiaG Zanni, F D'Abrusco, F Nicita, et al.
Computer Methods and Programs in Biomedicine|August 27, 2020
Validation of low-cost system for gait assessment in children with ataxiaS Summa, G Tartarisco, M Favetta, et al.
Clinical Genetics|November 29, 2016
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defectD Verrigni, D Diodato, M Di Nottia, et al.
Neuropediatrics|July 4, 2007
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosisN Cannelli, N Nardocci, D Cassandrini, et al.
Pediatric Research|September 1, 1990
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathyI Tein, D C De Vivo, F Bierman, et al.
Clinical Genetics|November 25, 2016
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosisM Garibaldi, F Fattori, B Riva, et al.
Neurology|May 24, 2006
Expanding the clinical spectrum of POMT1 phenotypeA D'Amico, A Tessa, C Bruno, et al.
Cerebellum (London, England)|March 6, 2019
Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital AtaxiaGinevra Zanni, P De Magistris, M Nardella, et al.
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