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Marina Pedemonte

Showing results (41-50 of 71) with videos related to

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Orphanet Journal of Rare Diseases|September 5, 2021
Growth patterns in children with spinal muscular atrophyRamona De Amicis, Giovanni Baranello, Andrea Foppiani, et al.
Frontiers in Neurology|October 22, 2021
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic OutcomeMarco Veneruso, Chiara Fiorillo, Paolo Broda, et al.
Neurogenetics|April 25, 2012
TRPV4 mutations in children with congenital distal spinal muscular atrophyChiara Fiorillo, Francesca Moro, Giacomo Brisca, et al.
Neurology|July 27, 2018
An observational study of functional abilities in infants, children, and adults with type 1 SMAMarika Pane, Concetta Palermo, Sonia Messina, et al.
Neuromuscular Disorders : NMD|July 2, 2018
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor functionMarika Pane, Concetta Palermo, Sonia Messina, et al.
Cellular and Molecular Life Sciences : CMLS|September 10, 2024
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophyChiara Panicucci, Eray Sahin, Martina Bartolucci, et al.
Nature Genetics|September 5, 2006
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataractFederico Zara, Roberta Biancheri, Claudio Bruno, et al.
Molecular Genetics & Genomic Medicine|August 7, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)Michela Bellardita, Ferruccio Romano, Ludovica Menta, et al.
Neuromuscular Disorders : NMD|September 9, 2020
Age and baseline values predict 12 and 24-month functional changes in type 2 SMAGiorgia Coratti, Maria C Pera, Simona Lucibello, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measureValeria A Sansone, Alice Pirola, Andrea Lizio, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
Orphanet Journal of Rare Diseases|September 5, 2021
Growth patterns in children with spinal muscular atrophyRamona De Amicis, Giovanni Baranello, Andrea Foppiani, et al.
Frontiers in Neurology|October 22, 2021
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic OutcomeMarco Veneruso, Chiara Fiorillo, Paolo Broda, et al.
Neurogenetics|April 25, 2012
TRPV4 mutations in children with congenital distal spinal muscular atrophyChiara Fiorillo, Francesca Moro, Giacomo Brisca, et al.
Neurology|July 27, 2018
An observational study of functional abilities in infants, children, and adults with type 1 SMAMarika Pane, Concetta Palermo, Sonia Messina, et al.
Neuromuscular Disorders : NMD|July 2, 2018
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor functionMarika Pane, Concetta Palermo, Sonia Messina, et al.
Cellular and Molecular Life Sciences : CMLS|September 10, 2024
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophyChiara Panicucci, Eray Sahin, Martina Bartolucci, et al.
Nature Genetics|September 5, 2006
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataractFederico Zara, Roberta Biancheri, Claudio Bruno, et al.
Molecular Genetics & Genomic Medicine|August 7, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)Michela Bellardita, Ferruccio Romano, Ludovica Menta, et al.
Neuromuscular Disorders : NMD|September 9, 2020
Age and baseline values predict 12 and 24-month functional changes in type 2 SMAGiorgia Coratti, Maria C Pera, Simona Lucibello, et al.
Neuromuscular Disorders : NMD|March 28, 2021
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measureValeria A Sansone, Alice Pirola, Andrea Lizio, et al.
Pageof 8