A novel pathogenic variant in the DYNC1H1 gene: the combining neuromuscular and brain involvement in the disease spectrum of “Dyneinopathyes”. A case report.
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingComprehensive central nervous system (CNS) functional evaluation in Italian children affected by Pompe disease: a longitudinal multicentre study
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingEarly real-life experience of Complement Factor C5 Inhibitors in refractory generalized myasthenia gravis
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingSleep Disordered Breathing in a cohort of patients with Duchenne Muscular Dystrophy: a retrospective analysis and future perspectives
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingPathogenic TNNI1 variants cause muscle disease manifesting as either a hypo- (recessively inherited) or a hyper- (dominantly inherited) contractile phenotype.
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingClinical variability and molecular complexity of FSHD: relevance of deep phenotyping and comprehensive genetics in characterizing atypical clinical cases
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingLong-read DNA and RNA sequencing improves analyzing large and complex genes: the example of TTN and NEB
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingEpilepsy and myasthenia gravis, clues of a complex interplay: case series and review of the literature
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingBasal metabolism, myokine levels and disease severity in Amyotrophic Lateral Sclerosis
/0 Commenti/in GRUPPO 3, musumeci, nigro, Uncategorized/da expomeetingSEGRETERIA NAZIONALE AIM
Seguici sulle nostre pagine social
SEGRETERIA ORGANIZZATIVA FIRST CLASS
First Class S.r.l. Meetings and Conferences