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Isabella Moroni

Showing results (11-20 of 159) with videos related to

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Neurology|July 28, 2017
Thiamine-responsive disease due to mutation of <i>tpk1</i>: Importance of avoiding misdiagnosisFederica Invernizzi, Celeste Panteghini, Luisa Chiapparini, et al.
Muscle & Nerve|February 12, 2014
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1aAnna Ardissone, Raffaella Brugnoni, Claudia Gandioli, et al.
Neuromuscular Disorders : NMD|May 2, 2019
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRISimona Saredi, Sara Gibertini, Leslie Matalonga, 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 12, 2022
Correction to: Kearns‑Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathyMarco Moscatelli, Anna Ardissone, Eleonora Lamantea, et al.
Human Mutation|June 23, 2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyAlessia Nasca, Andrea Legati, Enrico Baruffini, et al.
Frontiers in Genetics|December 6, 2014
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutationsFederica Invernizzi, Anna Ardissone, Eleonora Lamantea, et al.
Journal of the Peripheral Nervous System : JPNS|October 19, 2011
Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in childrenEmanuela Pagliano, Isabella Moroni, Giovanni Baranello, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 15, 2022
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathyMarco Moscatelli, Anna Ardissone, Eleonora Lamantea, et al.
Frontiers in Genetics|April 7, 2022
Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP MutationAlice Grossi, Federico Morelli, Marco Di Duca, et al.
Pageof 16

Showing results (11-20 of 159) with videos related to

Sort By:
Pageof 16
Neurology|July 28, 2017
Thiamine-responsive disease due to mutation of <i>tpk1</i>: Importance of avoiding misdiagnosisFederica Invernizzi, Celeste Panteghini, Luisa Chiapparini, et al.
Muscle & Nerve|February 12, 2014
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1aAnna Ardissone, Raffaella Brugnoni, Claudia Gandioli, et al.
Neuromuscular Disorders : NMD|May 2, 2019
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRISimona Saredi, Sara Gibertini, Leslie Matalonga, 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 12, 2022
Correction to: Kearns‑Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathyMarco Moscatelli, Anna Ardissone, Eleonora Lamantea, et al.
Human Mutation|June 23, 2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyAlessia Nasca, Andrea Legati, Enrico Baruffini, et al.
Frontiers in Genetics|December 6, 2014
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutationsFederica Invernizzi, Anna Ardissone, Eleonora Lamantea, et al.
Journal of the Peripheral Nervous System : JPNS|October 19, 2011
Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in childrenEmanuela Pagliano, Isabella Moroni, Giovanni Baranello, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 15, 2022
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathyMarco Moscatelli, Anna Ardissone, Eleonora Lamantea, et al.
Frontiers in Genetics|April 7, 2022
Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP MutationAlice Grossi, Federico Morelli, Marco Di Duca, et al.
Pageof 16