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European Journal of Human Genetics : EJHG
|
January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
Monica Traverso, Serena Baratto, Michele Iacomino, et al.
Orphanet Journal of Rare Diseases
|
May 14, 2017
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
Elena Maria Pennisi, Marcello Arca, Enrico Bertini, et al.
Science Translational Medicine
|
March 1, 2023
Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy
Valentina Taglietti, Kaouthar Kefi, Lea Rivera, et al.
Nature Genetics
|
September 5, 2006
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
Federico Zara, Roberta Biancheri, Claudio Bruno, et al.
Muscle & Nerve
|
October 23, 2021
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
Chiara Gemelli, Monica Traverso, Lucia Trevisan, et al.
Neurology
|
June 27, 2025
Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts
Amy Pasternak, Michael P McDermott, Jacqueline Montes, et al.
European Journal of Medicinal Chemistry
|
June 9, 2016
Synthesis, antiarrhythmic activity, and toxicological evaluation of mexiletine analogues
Mariagrazia Roselli, Alessia Carocci, Roberta Budriesi, et al.
Orphanet Journal of Rare Diseases
|
October 15, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Tomàs Pinós, Antoni L Andreu, Claudio Bruno, et al.
Vaccine
|
September 17, 2014
Vaccination recommendations for patients with neuromuscular disease
Susanna Esposito, Claudio Bruno, Angela Berardinelli, 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.
Page
of 31
Search research articles
Search
Showing results (181-190 of 302) with videos related to
Sort By:
Page
of 31
European Journal of Human Genetics : EJHG
|
January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
Monica Traverso, Serena Baratto, Michele Iacomino, et al.
Orphanet Journal of Rare Diseases
|
May 14, 2017
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
Elena Maria Pennisi, Marcello Arca, Enrico Bertini, et al.
Science Translational Medicine
|
March 1, 2023
Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy
Valentina Taglietti, Kaouthar Kefi, Lea Rivera, et al.
Nature Genetics
|
September 5, 2006
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
Federico Zara, Roberta Biancheri, Claudio Bruno, et al.
Muscle & Nerve
|
October 23, 2021
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
Chiara Gemelli, Monica Traverso, Lucia Trevisan, et al.
Neurology
|
June 27, 2025
Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts
Amy Pasternak, Michael P McDermott, Jacqueline Montes, et al.
European Journal of Medicinal Chemistry
|
June 9, 2016
Synthesis, antiarrhythmic activity, and toxicological evaluation of mexiletine analogues
Mariagrazia Roselli, Alessia Carocci, Roberta Budriesi, et al.
Orphanet Journal of Rare Diseases
|
October 15, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Tomàs Pinós, Antoni L Andreu, Claudio Bruno, et al.
Vaccine
|
September 17, 2014
Vaccination recommendations for patients with neuromuscular disease
Susanna Esposito, Claudio Bruno, Angela Berardinelli, 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.
Page
of 31