Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
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
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
SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum
Tasca G, Lattante S, Marangi G, et al.
European journal of neurology, 2020
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
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
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
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
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
MYO-MRI diagnostic protocols in genetic myopathies.
Chardon JW, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 827
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
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
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
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
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA, Levy Y, Ripolone M, et al.
Acta neuropathologica, 2019
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
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy
Jokela M, Tasca G, Vihola A, et al.
Neurology, 2019, 92, 14
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
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
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
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
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
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough
Tasca G, Udd B
Neuromuscular disorders : NMD, 2017
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
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
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
