RE-BVS – Piemonte Repository

Sfoglia per AUTORE
VERCELLI L
Collezione AOU Città della Salute di Torino

Items : 7

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients. in Clinical epigenetics / Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2.

2024
AOU Città della Salute di Torino
ASL Vercelli

Strafella C; Megalizzi D; Trastulli G; Proietti Piorgo E; Colantoni L; Tasca G; Monforte M; Zampatti S; Primiano G; Sancricca C; Bortolani S; Torchia E; Ravera B; Torri F; Gadaleta G; Risi B; Caria F; Gerardi F; Carraro E; Gioiosa V; Garibaldi M; Tufano L; Frezza E; Massa R; Caltagirone C; Pennisi EM; Petrucci A; Pane M; Frongia A; et alii...

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade. in European journal of neurology / Eur J Neurol. 2024 Jan;31(1):e16060. doi: 10.1111/ene.16060. Epub 2023 Sep 19.

2024
AO Cuneo
AOU Città della Salute di Torino

Mongini TE; Ricci FS; Vercelli L; Pidello S; Ribolla F; Raineri C; Mattei A; Rolle E; Cavallina I; D'Alessandro R; Brusa C; Urbano G; Gadaleta G;

Response to a letter to the editor. in Neurobiology of aging / Neurobiol Aging. 2019 Jun;78:195-196. doi: 10.1016/j.neurobiolaging.2019.02.015. Epub 2019 Mar 1.

2019
AOU Città della Salute di Torino

Rubino E; Zhang M; Mongini T; Boschi S; Vercelli L; Vacca A; Govone F; Gai A; Giordana MT; Grinberg M; Rogaeva E; Rainero I;

New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. in Expert review of clinical pharmacology / Expert Rev Clin Pharmacol. 2019 Aug;12(8):757-770. doi: 10.1080/17512433.2019.1634543. Epub 2019 Jul

2019
AOU Città della Salute di Torino

Ricci F; Vacchetti M; Brusa C; Vercelli L; Davico C; Vitiello B; Mongini T;

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. in Human mutation / Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4.

2018
AOU Città della Salute di Torino

Altamura C; Lucchiari S; Sahbani D; Ulzi G; Comi GP; D'Ambrosio P; Petillo R; Politano L; Vercelli L; Mongini T; Dotti MT; Cardani R; Meola G; Lo Monaco M; Matthews E; Hanna MG; Carratù MR; Conte D; Imbrici P; Desaphy JF; Altamura C; Lucchiari S; Sahbani D; Ulzi G; Comi GP; D'Ambrosio P; Petillo R; Politano L; Vercelli L; et alii...

Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy. in Neurobiology of aging / Neurobiol Aging. 2018 Jun;66:181.e1-181.e2. doi: 10.1016/j.neurobiolaging.2018.02.007. Epub 2018 Feb

2018
AOU Città della Salute di Torino

Rubino E; Zhang M; Mongini T; Boschi S; Vercelli L; Vacca A; Govone F; Gai A; Giordana MT; Grinberg M; Rogaeva E; Rainero I;

Early Recognition of Late-Onset Pompe Disease by Skeletal Muscle Signs and Symptoms. in Journal of neuromuscular diseases / J Neuromuscul Dis. 2015;2(s1):S2.

2015
AOU Città della Salute di Torino

Mongini T; Vercelli L; Ponzalino V; Bortolani S;