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Barbara Garavaglia

Showing results (71-80 of 129) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2008
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndromeCecilia Marelli, Laura Canafoglia, Federica Zibordi, et al.
Neurogenetics|July 1, 2017
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutationMiryam Carecchio, Marina Picillo, Lorella Valletta, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 23, 2003
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneityEnza-Maria Valente, Anjum Misbahuddin, Francesco Brancati, et al.
Orphanet Journal of Rare Diseases|April 5, 2018
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureAnna Ardissone, Davide Tonduti, Andrea Legati, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 13, 2009
Mutation screening of the DYT6/THAP1 gene in ItalyMonica Bonetti, Chiara Barzaghi, Francesco Brancati, et al.
Movement Disorders Clinical Practice|November 29, 2023
Unraveling Autonomic Dysfunction in GBA-Related Parkinson's DiseaseGrazia Devigili, Giulia Straccia, Emanuele Cereda, et al.
Annals of Neurology|January 27, 2006
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulationMonika B Hartig, Konstanze Hörtnagel, Barbara Garavaglia, et al.
EMBO Molecular Medicine|August 13, 2016
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegenerationDaniel I Orellana, Paolo Santambrogio, Alicia Rubio, et al.
Epilepsia Open|December 24, 2024
CLN6-related continuum phenotype caused by aberrant splicingFederica Invernizzi, Barbara Castellotti, Chiara Reale, et al.
Parkinsonism & Related Disorders|March 20, 2022
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonismBarbara Garavaglia, Sadeq Vallian, Luigi M Romito, et al.
Pageof 13

Showing results (71-80 of 129) with videos related to

Sort By:
Pageof 13
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2008
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndromeCecilia Marelli, Laura Canafoglia, Federica Zibordi, et al.
Neurogenetics|July 1, 2017
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutationMiryam Carecchio, Marina Picillo, Lorella Valletta, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 23, 2003
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneityEnza-Maria Valente, Anjum Misbahuddin, Francesco Brancati, et al.
Orphanet Journal of Rare Diseases|April 5, 2018
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureAnna Ardissone, Davide Tonduti, Andrea Legati, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 13, 2009
Mutation screening of the DYT6/THAP1 gene in ItalyMonica Bonetti, Chiara Barzaghi, Francesco Brancati, et al.
Movement Disorders Clinical Practice|November 29, 2023
Unraveling Autonomic Dysfunction in GBA-Related Parkinson's DiseaseGrazia Devigili, Giulia Straccia, Emanuele Cereda, et al.
Annals of Neurology|January 27, 2006
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulationMonika B Hartig, Konstanze Hörtnagel, Barbara Garavaglia, et al.
EMBO Molecular Medicine|August 13, 2016
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegenerationDaniel I Orellana, Paolo Santambrogio, Alicia Rubio, et al.
Epilepsia Open|December 24, 2024
CLN6-related continuum phenotype caused by aberrant splicingFederica Invernizzi, Barbara Castellotti, Chiara Reale, et al.
Parkinsonism & Related Disorders|March 20, 2022
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonismBarbara Garavaglia, Sadeq Vallian, Luigi M Romito, et al.
Pageof 13