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Mostrati risultati da 1 a 20 di 452
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy 2024 Bello, LucaSabbatini, DanieleGorgoglione, DomenicoRiguzzi, PietroVianello, SaraPegoraro, Elena + JOURNAL OF NEUROMUSCULAR DISEASES - -
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 2024 Pegoraro, ElenaSalvalaggio, AlessandroBriani, Chiara + BRAIN - -
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? 2023 Pegoraro, Elena + ANNALS OF NEUROLOGY - -
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability? 2023 Pegoraro, ElenaBello, Luca + JOURNAL OF NEUROMUSCULAR DISEASES - -
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey 2023 Pegoraro, Elena + NEUROLOGY - -
Analytical evaluation of a GAD65 antibodies chemiluminescence immunoassay for CSF in neurological syndromes 2023 Musso, GiuliaPadoan, AndreaPegoraro, ElenaBasso, Daniela + CLINICAL CHEMISTRY AND LABORATORY MEDICINE - -
Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients 2023 Wennberg, AlexandraGianni SorarùPegoraro, Elena + JOURNAL OF NEUROMUSCULAR DISEASES - -
Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance 2023 Sabbatini, DanieleBello, LucaPegoraro, ElenaSorarù, Gianni + JOURNAL OF NEUROLOGY - -
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA) 2023 Sabbatini, DanieleVianello, SaraPennuto, MariaPegoraro, ElenaBello, LucaSorarù, Gianni + SCIENTIFIC REPORTS - -
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 2023 Pegoraro, Elena + GENES - -
Troponin T in spinal and bulbar muscular atrophy (SBMA) 2023 Musso, GiuliaSabbatini, DanieleBello, LucaPegoraro, ElenaBasso, DanielaSorarù, Gianni + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy? 2023 Bello, LucaPegoraro, Elena + NATURE REVIEWS. NEUROLOGY - -
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022 2023 Pegoraro, Elena + NEUROMUSCULAR DISORDERS - -
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle 2023 Caterina MarchiorettiMarco PirazziniGaia GherardiLeonardo NogaraRoberta AndreottiPaolo MartiniLorenzo MarcucciMarta CanatoEmanuela ZuccaroCristina MammucariMarco PacificiAnna RaffaelloRosario RizzutoAndrea MattareiMarian A DesbatsLeonardo SalviatiAram MegighianGianni SorarùElena PegoraroElisa BelluzziAssunta PozzuoliCarlo BizPietro RuggieriChiara RomualdiMarco SandriBert BlaauwMaria Pennuto + NATURE COMMUNICATIONS - -
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study 2023 Bello, LucaCapece, GiulianaPegoraro, Elena + NEUROMUSCULAR DISORDERS - -
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern 2023 Pegoraro, Elena + JOURNAL OF NEUROMUSCULAR DISEASES - -
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study 2023 Pegoraro, ElenaBello, Luca + CHILDREN - -
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 2023 Pegoraro, Elena + ORPHANET JOURNAL OF RARE DISEASES - -
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis 2023 Pegoraro, Elena + JOURNAL OF NEUROLOGY - -
Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning 2023 Lupi, AmaliaBello, LucaStramare, RobertoPegoraro, Elena + PLOS ONE - -
Mostrati risultati da 1 a 20 di 452
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