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Neurology|October 20, 2010
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studiesD Cassandrini, R Biancheri, A Tessa, et al.Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.Neuromuscular Disorders : NMD|June 26, 2012
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiencyM Pane, S Messina, G Vasco, et al.Neurology|January 28, 2004
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosumC Casali, E M Valente, E Bertini, et al.Journal of Neurology|August 28, 2010
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arraysD H'mida-Ben Brahim, A M'zahem, M Assoum, et al.Human Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.European Journal of Neurology|August 12, 2018
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in ItalyC Mancini, E Giorgio, A Rubegni, et al.Neurology|September 8, 2010
Congenital muscular dystrophies with cognitive impairment. A population studyS Messina, C Bruno, I Moroni, et al.Neuromuscular Disorders : NMD|June 3, 2008
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian studyS Messina, M Mora, E Pegoraro, et al.Journal of Neurology|July 12, 2017
Revisiting mitochondrial ocular myopathies: a study from the Italian NetworkD Orsucci, C Angelini, E Bertini, et al.Pageof 13