PAGLIARANI, SERENA

PAGLIARANI, SERENA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 20 di 39 (tempo di esecuzione: 0.003 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
A severe pediatric case of congenital Myastenic Syndrome due to a novel mutation in COLQ gene 1-gen-2013 S. PagliaraniR. Del BoD. RonchiI. G. VetranoN. BresolinG.P. Comi + Article (author) -
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease 1-mar-2014 C. MarchesiMAZZEO, ANTONELLAS. PagliaraniS. LucchiariG.P. ComiE. Salsano + Article (author) -
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family 1-mag-2015 S. PagliaraniA. BordoniS. SalaniG.P. Comi + Article (author) -
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy 1-gen-2021 Mauri E.Pagliarani S.Magri F.Manini A.Ripolone M.Borellini L.Cinnante C.Corti S.Bresolin N.Comi G. P. + Article (author) -
Caratterizzazione molecolare dei geni CLCN1, SCN4A, KCNJ2, CACNA1S in pazienti con canalopatie muscolari 1-gen-2008 S. PagliaraniS. LucchiariS. CortiF. MagriM. CarpoN. BresolinG.P. Comi + Article (author) -
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis 1-gen-2022 Pagliarani, SerenaMeola, GiovanniComi, Giacomo PietroLucchiari, Sabrina + Article (author) -
Clinical, biochemical and genetic features of Glycogen Debrancher Enzyme deficiency 1-lug-2007 S. Pagliarani + Article (author) -
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency 1-gen-2007 S. LucchiariS. PagliaraniG.P. Comi + Article (author) -
Clinical, histological and molecular features of two italian families with mutations in CAV3 gene 1-gen-2013 D. RonchiS. PagliaraniA. BordoniF. MagriN. BresolinG.P. Comi + Article (author) -
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients 1-feb-2008 M. GuglieriF. MagriF. FortunatoA. BordoniR. Del BoS. PagliaraniS. LucchiariS. SalaniC. ZeccaC. LampertiD. RonchiN. BresolinG.P. Comi + Article (author) -
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion 15-dic-2008 S. LucchiariS. PagliaraniS.P. CortiE. MancinelliM. ServidaM.E. FrugugliettiV. SansoneN. BresolinG.P. ComiG. Meola + Article (author) -
Disease natural history in a large group of genetically diagnosed glycogen storage disease type III. 1-gen-2007 D. SantoroS.LucchiariS.PagliaraniA. BordoniS.PaciM.GiovanniniN. BresolinG. P. Comi + Conference Object -
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies 28-giu-2021 Mauri, EleonoraGovoni, AlessandraBrusa, RobertaPagliarani, SerenaRipolone, MichelaCinnante, ClaudiaBresolin, NereoCorti, StefaniaComi, Giacomo PMagri, Francesca + Article (author) -
Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice 1-gen-2019 Pagliarani, SerenaLucchiari, SabrinaRipolone, MichelaComi, Giacomo P + Article (author) -
Genetic distribution and unusual phenotypes in a periodic paralysis 1-gen-2013 S. PagliaraniV. SansoneM. ScarlatoF. MagriS. CortiG. MeolaG.P. Comi + Article (author) -
Glicogenosi di tipo III: rivalutazione delle caratteristiche cliniche e genetiche dei pazienti e stato dell’arte sul modello murino knock-out. 1-gen-2008 G.P. ComiS. LucchiariS. PagliaraniD. Santoro Conference Object -
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice 1-ott-2018 Pagliarani, SerenaLucchiari, SabrinaFortunato, FrancescoBordoni, AndreinaCorti, StefaniaBresolin, NereoComi, Giacomo P. + Article (author) -
Glycogen storage disease type III : A novel Agl knockout mouse model 1-nov-2014 S. PagliaraniA. BordoniM. NizzardoS. CortiN. BresolinG.P. Comi + Article (author) -
Hepatic and neuromuscular forms of glycogenosis Type III : nine mutations in AGL Gene 1-gen-2006 S. LucchiariS. PagliaraniS. SalaniD. MelisN. BresolinG.P. Comi + Article (author) -
Hypokalaemic periodic paralysis: a new nonsense mutation in KCNJ 2 gene 1-gen-2007 S.LucchiariS.PagliaraniS.CortiC. LampertiG.P.Comi + Conference Object -