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Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back
Buscara L, Gross DA, Daniele N
Journal of personalized medicine, 2020, 10, 4, p E258
Revue : Journal of personalized medicine, 10, 4 Titre : Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back Type de document : Article Auteurs : Buscara L ; Gross DA ; Daniele N Editeur : Switzerland Année de publication : 28/11/2020 Pages : p E258 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33260623 / DOI : 10.3390/jpm10040258
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33260623 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies
Nicolas HA, Bertrand AT, Labib S, et al.
Cells, 2020, 9, 11, p e2388
Revue : Cells, 9, 11 Titre : Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies Type de document : Article Auteurs : Nicolas HA ; Bertrand AT ; Labib S ; Mohamed-Uvaize M ; Bolongo PM ; Wu WY ; Bilinska ZT ; Bonne G ; Akimenko MA ; Tesson F Editeur : Switzerland Année de publication : 31/10/2020 Pages : p e2388 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33142761 / DOI : 10.3390/cells9112388
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33142761 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Translating Molecular Technologies into Routine Newborn Screening Practice
Furnier SM, Durkin MS, Baker MW
International journal of neonatal screening, 2020, 6, 4, p E80
Revue : International journal of neonatal screening, 6, 4 Titre : Translating Molecular Technologies into Routine Newborn Screening Practice Type de document : Article Auteurs : Furnier SM ; Durkin MS ; Baker MW Editeur : Switzerland Année de publication : 15/10/2020 Pages : p E80 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33124618 / DOI : 10.3390/ijns6040080
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33124618 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Comparison of Serum Pharmacodynamic Biomarkers in Prednisone-Versus Deflazacort-Treated Duchenne Muscular Dystrophy Boys
Tawalbeh S, Samsel A, Gordish-Dressman H, et al.
Journal of personalized medicine, 2020, 10, 4, p e164
Revue : Journal of personalized medicine, 10, 4 Titre : Comparison of Serum Pharmacodynamic Biomarkers in Prednisone-Versus Deflazacort-Treated Duchenne Muscular Dystrophy Boys Type de document : Article Auteurs : Tawalbeh S ; Samsel A ; Gordish-Dressman H ; Hathout Y ; Investigators CD ; Dang UJ Editeur : Switzerland Année de publication : 12/10/2020 Pages : p e164 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33053810 / DOI : 10.3390/jpm10040164
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33053810 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Need for NAD(+): Focus on Striated Muscle Laminopathies
Cardoso D, Muchir A
Cells, 2020, 9, 10, p e2248
Revue : Cells, 9, 10 Titre : Need for NAD(+): Focus on Striated Muscle Laminopathies Type de document : Article Auteurs : Cardoso D ; Muchir A Editeur : Switzerland Année de publication : 07/10/2020 Pages : p e2248 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33036437 / DOI : 10.3390/cells9102248
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33036437 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
Marioli C, Magliocca V, Petrini S, et al.
International Journal of molecular sciences, 2020, 21, 19, p e7402
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Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies
Adorisio R, Mencarelli E, Cantarutti N, et al.
Journal of clinical medicine, 2020, 9, 10, p e3186
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Effects of Mini-Dystrophin on Dystrophin-Deficient, Human Skeletal Muscle-Derived Cells
Meng J, Counsell J, Morgan JE
International Journal of molecular sciences, 2020, 21, 19, p e7168
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Impact of Aquatic Exercise on Respiratory Outcomes and Functional Activities in Children with Neuromuscular Disorders: Findings from an Open-Label and Prospective Preliminary Pilot Study
Huguet-Rodriguez M, Arias-Buria JL, Huguet-Rodriguez B, et al.
Brain sciences, 2020, 10, 7, p E458
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Learnings from Patient-Report Workshop on Disease Progression in Myotonic Dystrophy
White M
Therapeutic innovation & regulatory science, 2020, 54, 4, p 775
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EDMD-Causing Emerin Mutant Myogenic Progenitors Exhibit Impaired Differentiation Using Similar Mechanisms
Iyer A, Holaska JM
Cells, 2020, 9, 6
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Emerin Phosphorylation during the Early Phase of the Oxidative Stress Response Influences Emerin-BAF Interaction and BAF Nuclear Localization
Cenni V, Squarzoni S, Loi M, et al.
Cells, 2020, 9, 6
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Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review
Samukawa M, Nakamura N, Hirano M, et al.
European neurology, 2020
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N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice
Garcia-Campos P, Baez-Matus X, Jara-Gutierrez C, et al.
International Journal of molecular sciences, 2020, 21, 12
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A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases
Rzepnikowska W, Kaminska J, Kabzinska D, et al.
International Journal of molecular sciences, 2020, 21, 12
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An Omics View of Emery-Dreifuss Muscular Dystrophy
Vignier N, Muchir A
Journal of personalized medicine, 2020, 10, 2
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Differential diagnosis of vacuolar myopathies in the NGS era
Mair D, Biskup S, Kress W, et al.
Brain pathology (Zurich, Switzerland), 2020
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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, et al.
Genes, 2020, 11, 5
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Enhanced Clearance of Neurotoxic Misfolded Proteins by the Natural Compound Berberine and Its Derivatives
Rusmini P, Cristofani R, Tedesco B, et al.
International Journal of molecular sciences, 2020, 21, 10
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Cognitive Deficits in Myopathies
Peristeri E, Aloizou AM, Keramida P, et al.
International Journal of molecular sciences, 2020, 21, 11
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Oedematous myositis: a clinical presentation first suggesting dermatomyositis diagnosis
Duchesne M, Leonard-Louis S, Landon-Cardinal O, et al.
Brain pathology (Zurich, Switzerland), 2020
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Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease
Romano R, Rivellini C, De Luca M, et al.
Cellular and molecular life sciences : CMLS, 2020
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Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives
Brusa R, Magri F, Bresolin N, et al.
Cellular and molecular life sciences : CMLS, 2020
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Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy
Harandi VM, Oliveira BMS, Allamand V, et al.
Antioxidants (Basel, Switzerland), 2020, 9, 3
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