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Clinical Genetics|February 20, 2018
Expanding the histopathological spectrum of CFL2-related myopathiesF Fattori, C Fiorillo, C Rodolico, et al.
Neurology|April 27, 2005
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 childrenM Henneke, N Preuss, V Engelbrecht, et al.
Viruses|May 17, 2012
Structural basis for differential neutralization of ebolavirusesShridhar Bale, Joao M Dias, Marnie L Fusco, et al.
Neurology|May 12, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophiesA Fogli, R Schiffmann, E Bertini, et al.
Annals of Neurology|November 18, 2000
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesA Ferreiro, B Estournet, D Chateau, et al.
Neuromuscular Disorders : NMD|March 8, 2013
Duchenne muscular dystrophy and epilepsyM Pane, S Messina, C Bruno, et al.
American Journal of Human Genetics|April 28, 2001
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneityM Malacarne, E Gennaro, F Madia, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 4, 2026
Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature reviewD Diodato, L Bosco, M Catteruccia, et al.
Neuroradiology|April 10, 2003
Diagnostic imaging in 13 cases of Rasmussen's encephalitis: can early MRI suggest the diagnosis?L Chiapparini, T Granata, L Farina, et al.
Clinical Genetics|July 28, 2016
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7M Di Nottia, M Masciullo, D Verrigni, et al.
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