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Auteur Tasca G |
Documents disponibles écrits par cet auteur



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247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019
Warman-Chardon J, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2020
Revue : Neuromuscular disorders : NMD Titre : 247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019 Type de document : Article Auteurs : Warman-Chardon J ; Diaz-Manera J ; Tasca G ; Straub V Editeur : England Année de publication : 26/09/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33004285 / DOI : 10.1016/j.nmd.2020.08.360
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33004285 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Giacomucci G, Monforte M, Diaz-Manera J, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging Type de document : Article Auteurs : Giacomucci G ; Monforte M ; Diaz-Manera J ; Mul K ; Fernández-Torrón R ; Maggi L ; Marini Bettolo C ; Dahlqvist JR ; Haberlova J ; Camano P ; Gros M ; Tartaglione T ; Cristiano L ; Gerevini S ; Calandra P ; Deidda G ; Giardina E ; Sacconi S ; Straub V ; Vissing J ; van Engelen B ; Ricci E ; Tasca G Editeur : England Année de publication : 07/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32697863 / DOI : 10.1111/ene.14446
N° Profil MNM : 2020072 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32697863 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum
Tasca G, Lattante S, Marangi G, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum Type de document : Article Auteurs : Tasca G, Auteur ; Lattante S ; Marangi G ; Conte A ; Bernardo D ; Bisogni G ; Mandich P ; Zollino M ; Ragozzino E ; Udd B ; Sabatelli M Editeur : England Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32250500 / DOI : 10.1111/ene.14246
N° Profil MNM : 2020041 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32250500 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
Maggi L, Brugnoni R, Canioni E, et al.
Frontiers in neurology, 2020, 11, p 646
Revue : Frontiers in neurology, 11 Titre : Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients Type de document : Article Auteurs : Maggi L ; Brugnoni R ; Canioni E ; Tonin P ; Saletti V ; Sola P ; Piccinelli SC ; Colleoni L ; Ferrigno P ; Pini A ; Masson R ; Manganelli F ; Lietti D ; Vercelli L ; Ricci G ; Bruno C ; Tasca G ; Pizzuti A ; Padovani A ; Fusco C ; Pegoraro E ; Ruggiero L ; Ravaglia S ; Siciliano G ; Morandi L ; Dubbioso R ; Mongini T ; Filosto M ; Tramacere I ; Mantegazza R ; Bernasconi P Année de publication : 2020 Pages : p 646 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32849172 / DOI : 10.3389/fneur.2020.00646
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32849172 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Genotype-phenotype correlations in recessive titinopathies
Savarese M, Vihola A, Oates EC, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
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Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Verdu-Diaz J, Alonso-Perez J, Nunez-Peralta C, et al.
Neurology, 2020, 94, 10, p e1094
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MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients
Brogna C, Cristiano L, Verdolotti T, et al.
Journal of neurology, 2019
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MYO-MRI diagnostic protocols in genetic myopathies.
Chardon JW, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 827
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Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging
Monforte M, Laschena F, Ottaviani P, et al.
Journal of cachexia, sarcopenia and muscle, 2019
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Glycogenin is dispensable for glycogen synthesis in human muscle and glycogenin deficiency causes polyglucosan storage
Visuttijai K, Carola HO, Thomsen C, et al.
The Journal of clinical endocrinology and metabolism, 2019
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp A, Laforêt P, Bello L, et al.
Journal of neurology, 2019
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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy
van Tol W, van Scherpenzeel M, Alsady M, et al.
Clinical chemistry, 2019
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Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA, Levy Y, Ripolone M, et al.
Acta neuropathologica, 2019
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alonso-Jimenez A, Alonso-Jimenez A, Kroon RHMJM, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019, 90, 5, p 576
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An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy
Jokela M, Tasca G, Vihola A, et al.
Neurology, 2019, 92, 14
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Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives
Paoletti M, Pichiecchio A, Cotti Piccinelli S, et al.
Frontiers in neurology, 2019, 10
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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese M, Maggi L, Vihola A, et al.
JAMA Neurology, 2018, 75, 5, p 557
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MRI in sarcoglycanopathies: a large international cohort study
Tasca G, Monforte M, Diaz-Manera J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 1, p 72
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Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy
Vihola A, Luque H, Savarese M, et al.
Neuropathology and applied neurobiology, 2018, 44, 5, p 441
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Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy
Brogna C, Cristiano L, Tartaglione T, et al.
PLoS ONE, 2018, 13, 6
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Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough
Tasca G, Udd B
Neuromuscular disorders : NMD, 2017
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Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders
D'Amico A, Fattori F, Tasca G, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2017, 21, 6, p 873
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Muscle MRI in neutral lipid storage disease (NLSD)
Garibaldi M, Tasca G, Diaz-Manera J, et al.
Journal of neurology, 2017, 264, 7, p 1334
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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Evila A, Palmio J, Vihola A, et al.
Molecular neurobiology, 2017, 54, 9, p 7212
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