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Maria Valente

Showing results (81-90 of 358) with videos related to

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Neurogenetics|June 30, 2025
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2Simone Gana, Luisa Piccinni, Elisa Rognone, et al.
American Journal of Medical Genetics. Part A|November 11, 2022
Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC geneJessica Galli, Enza Maria Valente, Joseph Dewulf, et al.
Cells|February 25, 2022
PINK1 Protects against Staurosporine-Induced Apoptosis by Interacting with Beclin1 and Impairing Its Pro-Apoptotic CleavageFrancesco Brunelli, Liliana Torosantucci, Vania Gelmetti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 22, 2021
Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear CellsMicol Avenali, Silvia Cerri, Gerardo Ongari, et al.
European Journal of Human Genetics : EJHG|April 15, 2004
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian familyAntonio Novelli, Enza Maria Valente, Laura Bernardini, et al.
Parkinsonism & Related Disorders|August 22, 2020
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onsetMassimiliano Todisco, Simone Gana, Giuseppe Cosentino, et al.
Orphanet Journal of Rare Diseases|April 4, 2025
Biological pathways leading to septo-optic dysplasia: a reviewLudovica Pasca, Davide Politano, Federica Morelli, et al.
Arquivos De Neuro-Psiquiatria|March 30, 2022
Dialysis headache: characteristics, impact and cerebrovascular evaluationEduardo Sousa Melo, Rodrigo Pinto Pedrosa, Filipe Carrilho Aguiar, et al.
Journal of Autism and Developmental Disorders|May 3, 2024
Feasibility and Efficacy of a Virtual Reality Social Prediction Training in Children and Young Adults with Congenital Cerebellar MalformationsNiccolò Butti, Emilia Biffi, Romina Romaniello, et al.
American Journal of Human Genetics|August 9, 2003
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformationEnza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, et al.
Pageof 36

Showing results (81-90 of 358) with videos related to

Sort By:
Pageof 36
Neurogenetics|June 30, 2025
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2Simone Gana, Luisa Piccinni, Elisa Rognone, et al.
American Journal of Medical Genetics. Part A|November 11, 2022
Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC geneJessica Galli, Enza Maria Valente, Joseph Dewulf, et al.
Cells|February 25, 2022
PINK1 Protects against Staurosporine-Induced Apoptosis by Interacting with Beclin1 and Impairing Its Pro-Apoptotic CleavageFrancesco Brunelli, Liliana Torosantucci, Vania Gelmetti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 22, 2021
Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear CellsMicol Avenali, Silvia Cerri, Gerardo Ongari, et al.
European Journal of Human Genetics : EJHG|April 15, 2004
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian familyAntonio Novelli, Enza Maria Valente, Laura Bernardini, et al.
Parkinsonism & Related Disorders|August 22, 2020
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onsetMassimiliano Todisco, Simone Gana, Giuseppe Cosentino, et al.
Orphanet Journal of Rare Diseases|April 4, 2025
Biological pathways leading to septo-optic dysplasia: a reviewLudovica Pasca, Davide Politano, Federica Morelli, et al.
Arquivos De Neuro-Psiquiatria|March 30, 2022
Dialysis headache: characteristics, impact and cerebrovascular evaluationEduardo Sousa Melo, Rodrigo Pinto Pedrosa, Filipe Carrilho Aguiar, et al.
Journal of Autism and Developmental Disorders|May 3, 2024
Feasibility and Efficacy of a Virtual Reality Social Prediction Training in Children and Young Adults with Congenital Cerebellar MalformationsNiccolò Butti, Emilia Biffi, Romina Romaniello, et al.
American Journal of Human Genetics|August 9, 2003
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformationEnza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, et al.
Pageof 36