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Enrico S Bertini

Showing results (11-20 of 21) with videos related to

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Cellular and Molecular Life Sciences : CMLS|September 22, 2022
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxiaAndrea Delle Vedove, Janani Natarajan, Ginevra Zanni, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophyKathryn R Wagner, Hoda Z Abdel-Hamid, Jean K Mah, et al.
Drugs in R&D|May 28, 2025
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular DystrophyLuca Bello, Pietro Riguzzi, Emilio Albamonte, et al.
Neurology. Clinical Practice|June 27, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3Federica Trucco, Deborah Ridout, Harriet Weststrate, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
The Lancet. Diabetes & Endocrinology|August 5, 2019
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trialStefan Groeneweg, Robin P Peeters, Carla Moran, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

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Pageof 3
Cellular and Molecular Life Sciences : CMLS|September 22, 2022
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxiaAndrea Delle Vedove, Janani Natarajan, Ginevra Zanni, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophyKathryn R Wagner, Hoda Z Abdel-Hamid, Jean K Mah, et al.
Drugs in R&D|May 28, 2025
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular DystrophyLuca Bello, Pietro Riguzzi, Emilio Albamonte, et al.
Neurology. Clinical Practice|June 27, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3Federica Trucco, Deborah Ridout, Harriet Weststrate, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
The Lancet. Diabetes & Endocrinology|August 5, 2019
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trialStefan Groeneweg, Robin P Peeters, Carla Moran, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Pageof 3