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BMC Neurology|December 29, 2018
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eyeEleonora Mauri, Robertino Dilena, Antonio Boccazzi, et al.
Rejuvenation Research|August 30, 2008
Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal lobar degenerationB Borroni, S Ghezzi, C Agosti, et al.
Journal of the Neurological Sciences|September 20, 2005
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsyMonica Sciacco, Alessandro Prelle, Gigliola Fagiolari, et al.
Journal of the Neurological Sciences|December 27, 2011
Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian familiesMichela Ranieri, Roberto Del Bo, Andreina Bordoni, et al.
Molecular Genetics & Genomic Medicine|June 25, 2020
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive formRoberta Telese, Serena Pagliarani, Alberto Lerario, et al.
Journal of Neurology|June 26, 2008
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegiaRoberta Virgilio, Dario Ronchi, Georgios M Hadjigeorgiou, et al.
Frontiers in Neurology|October 31, 2018
Stormorken Syndrome Caused by a p.R304W <i>STIM1</i> Mutation: The First Italian Patient and a Review of the LiteratureOscar Borsani, Daniela Piga, Stefania Costa, et al.
Clinical Neuropathology|August 5, 2000
A sporadic, atypical case of desminopathy: morphological and immunological characterizationA Prelle, M Sciacco, G P Comi, et al.
Parkinsonism & Related Disorders|December 7, 2021
VPS13C-associated Parkinson's disease: Two novel cases and review of the literatureEdoardo Monfrini, Francesca Spagnolo, Margherita Canesi, et al.
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