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Acta Neuropathologica|July 21, 1999
Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren)M Villanova, C Ceuterick, M T Dotti, et al.Pediatric Research|May 1, 1996
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutationF M Santorelli, S C Mak, M E Vazquez-Memije, 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.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.Cephalalgia : an International Journal of Headache|February 14, 2006
A novel ATP1A2 mutation in a family with FHM type IIF Pierelli, G S Grieco, F Pauri, et al.Neurology|May 24, 2006
Expanding the clinical spectrum of POMT1 phenotypeA D'Amico, A Tessa, C Bruno, et al.European Journal of Neurology|July 24, 2012
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian seriesE Prodi, M Grisoli, M Panzeri, et al.Neuromuscular Disorders : NMD|February 5, 2003
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 geneG Siciliano, A Tessa, S Petrini, et al.Journal of Inherited Metabolic Disease|April 8, 2006
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentationS Fecarotta, G Parenti, P Vajro, et al.Neurology|January 14, 2004
Clinical and molecular findings in patients with giant axonal neuropathy (GAN)C Bruno, E Bertini, A Federico, et al.Pageof 13