PAGLIARANI, SERENA

PAGLIARANI, SERENA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis 2024 Biella, FabioLucchiari, SabrinaComi, Giacomo PietroMeola, GiovanniPagliarani, Serena + Article (author) -
Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy 2023 Pagliarani, SerenaCogiamanian, FilippoCorti, StefaniaComi, Giacomo PietroRonchi, Dario + Article (author) -
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis 2022 Pagliarani, SerenaMeola, GiovanniComi, Giacomo PietroLucchiari, Sabrina + Article (author) -
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy 2021 Mauri E.Pagliarani S.Magri F.Manini A.Ripolone M.Borellini L.Cinnante C.Corti S.Bresolin N.Comi G. P. + Article (author) -
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies 2021 Mauri, EleonoraGovoni, AlessandraBrusa, RobertaPagliarani, SerenaRipolone, MichelaCinnante, ClaudiaBresolin, NereoCorti, StefaniaComi, Giacomo PMagri, Francesca + Article (author) -
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4 2020 Pagliarani S.Lucchiari S.Redaelli E.Magri F.Fossati B.Sansone V. A.Meola G.Comi G. P. + Article (author) -
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form 2020 Pagliarani S.Lerario A.Conte G.Cinnante C.Comi G. P.Peverelli L. + Article (author) -
Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice 2019 Pagliarani, SerenaLucchiari, SabrinaRipolone, MichelaComi, Giacomo P + Article (author) -
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice 2018 Pagliarani, SerenaLucchiari, SabrinaFortunato, FrancescoBordoni, AndreinaCorti, StefaniaBresolin, NereoComi, Giacomo P. + Article (author) -
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression 2018 Pagliarani, SerenaLucchiari, SabrinaComi, Giacomo Pietro + Article (author) -
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation 2016 I. ColomboS. PagliaraniC.M. CinnanteA. BordoniF. FortunatoF. MagriG.P. Comi + Article (author) -
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family 2015 S. PagliaraniA. BordoniS. SalaniG.P. Comi + Article (author) -
Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches 2015 M. NizzardoC. SimoneS. DamettiS. SalaniG. UlziS. PagliaraniF. RizzoE. FrattiniN. BresolinG. ComiS. Corti + Article (author) -
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease 2014 C. MarchesiMAZZEO, ANTONELLAS. PagliaraniS. LucchiariG.P. ComiE. Salsano + Article (author) -
Glycogen storage disease type III : A novel Agl knockout mouse model 2014 S. PagliaraniA. BordoniM. NizzardoS. CortiN. BresolinG.P. Comi + Article (author) -
Genetic distribution and unusual phenotypes in a periodic paralysis 2013 S. PagliaraniV. SansoneM. ScarlatoF. MagriS. CortiG. MeolaG.P. Comi + Article (author) -
A severe pediatric case of congenital Myastenic Syndrome due to a novel mutation in COLQ gene 2013 S. PagliaraniR. Del BoD. RonchiI. G. VetranoN. BresolinG.P. Comi + Article (author) -
Clinical, histological and molecular features of two italian families with mutations in CAV3 gene 2013 D. RonchiS. PagliaraniA. BordoniF. MagriN. BresolinG.P. Comi + Article (author) -
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 2013 D. RonchiA. BordoniS. PagliaraniL. PeverelliI.G. VetranoS. CortiN. BresolinG.P. Comi + Article (author) -
Mutations in DNA2 cause progressive myopathy with mtDNA instability 2013 D. RonchiS. PagliaraniF. MagriL. PeverelliS. CortiN. BresolinG.P. Comi + Article (author) -