Filippo Maria Santorelli - JoVE Visualize

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Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|August 6, 2021

Management of motor rehabilitation in individuals with muscular dystrophies. 1<sup>st</sup> Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019)Maria Elena Lombardo, Elena Carraro, Cristina Sancricca, et al.

Seizure|August 29, 2024

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational studyEmanuele Bartolini, Anna Rita Ferrari, Filippo Maria Santorelli, et al.

JIMD Reports|March 2, 2017

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.

Journal of Personalized Medicine|February 25, 2022

Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional PerspectiveAnna Maria Chilosi, Irina Podda, Ivana Ricca, et al.

Neurobiology of Disease|January 8, 2025

Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACSValentina Naef, Devid Damiani, Rosario Licitra, et al.

Journal of Personalized Medicine|October 14, 2020

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian StudySara Calderoni, Ivana Ricca, Giulia Balboni, et al.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 27, 2017

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1Anna Rubegni, Tiziana Pisano, Giacomo Bacci, et al.

Biochemical and Biophysical Research Communications|April 7, 2018

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW geneElena Cardaioli, Andrea Mignarri, Teresa Anna Cantisani, et al.

Neurochemical Research|March 25, 2004

Respiratory complex I in brain development and genetic diseaseSergio Papa, Vittoria Petruzzella, Salvatore Scacco, et al.

Neurogenetics|February 9, 2024

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literatureEttore Cioffi, Gianluca Coppola, Olimpia Musumeci, et al.

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Showing results (81-90 of 197) with videos related to

Sort By:

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Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|August 6, 2021

Management of motor rehabilitation in individuals with muscular dystrophies. 1<sup>st</sup> Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019)Maria Elena Lombardo, Elena Carraro, Cristina Sancricca, et al.

Seizure|August 29, 2024

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational studyEmanuele Bartolini, Anna Rita Ferrari, Filippo Maria Santorelli, et al.

JIMD Reports|March 2, 2017

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.

Journal of Personalized Medicine|February 25, 2022

Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional PerspectiveAnna Maria Chilosi, Irina Podda, Ivana Ricca, et al.

Neurobiology of Disease|January 8, 2025

Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACSValentina Naef, Devid Damiani, Rosario Licitra, et al.

Journal of Personalized Medicine|October 14, 2020

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian StudySara Calderoni, Ivana Ricca, Giulia Balboni, et al.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 27, 2017

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1Anna Rubegni, Tiziana Pisano, Giacomo Bacci, et al.

Biochemical and Biophysical Research Communications|April 7, 2018

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW geneElena Cardaioli, Andrea Mignarri, Teresa Anna Cantisani, et al.

Neurochemical Research|March 25, 2004

Respiratory complex I in brain development and genetic diseaseSergio Papa, Vittoria Petruzzella, Salvatore Scacco, et al.

Neurogenetics|February 9, 2024

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literatureEttore Cioffi, Gianluca Coppola, Olimpia Musumeci, et al.

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