PEGORARO, ELENA

PEGORARO, ELENA  

Dipartimento di Neuroscienze - DNS  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 2016 Angelini, CorradoPEGORARO, ELENAZeviani, Massimo + NEUROMUSCULAR DISORDERS - -
169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands. 2011 PEGORARO, ELENA + NEUROMUSCULAR DISORDERS - -
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France 2017 PEGORARO, ELENAGORECKI, DARIUSZ , CEZARYSANDONA', DORIANNASEMPLICINI, CLAUDIO + NEUROMUSCULAR DISORDERS - -
2004. Double trouble for muscle and nerve: lamin A/C and PMP22 mutations in the same family. 2004 PEGORARO, ELENAGAVASSINI, BRUNO FRANCESCOMOSTACCIUOLO, MARIA LUISAANGELINI, CORRADO + BASIC AND APPLIED MYOLOGY - -
238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018 2019 Pegoraro E. + NEUROMUSCULAR DISORDERS - -
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy. 2013 BELLO, LUCAPEGORARO, ELENA + PLOS ONE - -
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 - -
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. 2014 BELLO, LUCAPEGORARO, ELENA + PLOS ONE - -
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 2021 Pegoraro E. + FRONTIERS IN GENETICS - -
A 3d culture model of innervated human skeletal muscle enables studies of the adult neuromuscular junction 2019 Pegoraro E. + ELIFE - -
A 5-year clinical follow-up study from the Italian National Registry for FSHD 2021 Angelini C.Pegoraro E. + JOURNAL OF NEUROLOGY - -
A case of myasthenia gravis and autoimmune thyroditis after mycoplasma pneumonite infection: a role for superantigen? 2001 PEGORARO, ELENAANGELINI, CORRADO + - - -
A case of ‘never-experienced before’ headache in a young man. 2010 BELLO, LUCAPALMIERI, ARIANNASORARU', GIANNIPEGORARO, ELENAANGELINI, CORRADO + NEUROLOGICAL SCIENCES - -
A checklist for clinical trials in rare disease: Obstacles and anticipatory actions-lessons learned from the FOR-DMD trial 2018 Pegoraro, Elena + TRIALS - -
A Diagnostic Dilemma in a Family with Cystinuria Type B Resolved by Muscle Magnetic Resonance 2015 PEGORARO, ELENA + PEDIATRIC NEUROLOGY - -
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. 2014 SORARU', GIANNIPEGORARO, ELENA + HUMAN MOLECULAR GENETICS - -
A mobile app for patients with Pompe disease and its possible clinical applications 2018 Vianello, AndreaPegoraro, E.Angelini, C. + NEUROMUSCULAR DISORDERS - -
A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates. 2014 TONIOLO, LUANAPEGORARO, ELENABELLO, LUCAREGGIANI, CARLO + HUMAN MUTATION - -
A new paramyotonia congenita mutation in a novel Na+ channel region involved in inactivation 2000 PEGORARO, ELENAANGELINI, CORRADO + AMERICAN JOURNAL OF HUMAN GENETICS - -
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency 2020 Pegoraro E. + ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - -