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Enza Maria Valente

Showing results (51-60 of 335) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|August 27, 2019
Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunctionElisa Menozzi, Bettina Balint, Anna Latorre, et al.
European Journal of Human Genetics : EJHG|May 26, 2018
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotypeSara Nuovo, Alessia Micalizzi, Stefano D'Arrigo, et al.
Journal of the Neurological Sciences|April 9, 2018
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutationMaria Stamelou, Simona Petrucci, Monia Ginevrino, et al.
Movement Disorders Clinical Practice|March 5, 2026
Parkin-Related Parkinson's Disease Presenting With Childhood-Onset Isolated Action Tremor: A Case ReportRuggero Bacchin, Fiorenza Soli, Jessica Garau, et al.
Neurogenetics|June 3, 2016
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutationAlessia Micalizzi, Isabella Moroni, Monia Ginevrino, et al.
Annals of Neurology|July 12, 2002
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34Enza Maria Valente, Francesco Brancati, Viviana Caputo, et al.
Dermatology (Basel, Switzerland)|January 13, 2012
Primary focal hyperhidrosis in a new family not linked to known lociFrancesca Del Sorbo, Francesco Brancati, Gabriella De Joanna, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|October 18, 2021
Social prediction in pediatric patients with congenital, non-progressive malformations of the cerebellum: From deficits in predicting movements to rehabilitation in virtual realityCosimo Urgesi, Niccolò Butti, Alessandra Finisguerra, et al.
American Journal of Medical Genetics. Part A|February 27, 2021
Novel unconventional variants expand the allelic spectrum of OPHN1 geneSara Nuovo, Vesna Brankovic, Caterina Caputi, et al.
Human Molecular Genetics|October 7, 2005
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonismLaura Silvestri, Viviana Caputo, Emanuele Bellacchio, et al.
Pageof 34

Showing results (51-60 of 335) with videos related to

Sort By:
Pageof 34
Movement Disorders : Official Journal of the Movement Disorder Society|August 27, 2019
Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunctionElisa Menozzi, Bettina Balint, Anna Latorre, et al.
European Journal of Human Genetics : EJHG|May 26, 2018
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotypeSara Nuovo, Alessia Micalizzi, Stefano D'Arrigo, et al.
Journal of the Neurological Sciences|April 9, 2018
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutationMaria Stamelou, Simona Petrucci, Monia Ginevrino, et al.
Movement Disorders Clinical Practice|March 5, 2026
Parkin-Related Parkinson's Disease Presenting With Childhood-Onset Isolated Action Tremor: A Case ReportRuggero Bacchin, Fiorenza Soli, Jessica Garau, et al.
Neurogenetics|June 3, 2016
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutationAlessia Micalizzi, Isabella Moroni, Monia Ginevrino, et al.
Annals of Neurology|July 12, 2002
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34Enza Maria Valente, Francesco Brancati, Viviana Caputo, et al.
Dermatology (Basel, Switzerland)|January 13, 2012
Primary focal hyperhidrosis in a new family not linked to known lociFrancesca Del Sorbo, Francesco Brancati, Gabriella De Joanna, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|October 18, 2021
Social prediction in pediatric patients with congenital, non-progressive malformations of the cerebellum: From deficits in predicting movements to rehabilitation in virtual realityCosimo Urgesi, Niccolò Butti, Alessandra Finisguerra, et al.
American Journal of Medical Genetics. Part A|February 27, 2021
Novel unconventional variants expand the allelic spectrum of OPHN1 geneSara Nuovo, Vesna Brankovic, Caterina Caputi, et al.
Human Molecular Genetics|October 7, 2005
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonismLaura Silvestri, Viviana Caputo, Emanuele Bellacchio, et al.
Pageof 34