E-LIB Suche - Ergebnisse für: Pagliarani, Serena

1

Case report: A novel ACTA1 variant in a patient with nemali..:

Piga, Daniela ; Rimoldi, Martina ; Magri, Francesca...
Frontiers in Neurology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Case report: Dihydropyridine receptor (CACNA1S) congenital ..:

Aburahma, Samah K. ; Rousan, Liqa A. ; Shboul, Mohammad...
Frontiers in Neurology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

3

Case report: Clinical and molecular characterization of two..:

Velardo, Daniele ; Antognozzi, Sara ; Rimoldi, Martina...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Combined RNA interference and gene replacement therapy targ..:

Rizzo, Federica ; Bono, Silvia ; Ruepp, Marc David...
Cellular and Molecular Life Sciences. 80 (2023) 12 - p. , 2023

Link: https://doi.org/10.1007/..

5

Case report: Sodium and chloride muscle channelopathy coexi..:

Pagliarani, Serena ; Meola, Giovanni ; Filareti, Melania..
Frontiers in Neurology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

6

CACNA1S mutation associated with a case of juvenile-onset c..:

Mauri, Eleonora ; Piga, Daniela ; Pagliarani, Serena...
Journal of the Neurological Sciences. 431 (2021) - p. 120047 , 2021

Link: https://doi.org/10.1016/..

7

p.Asn1180Ile mutation of SCN4A gene in an Italian family wi..:

Rigamonti, Andrea ; Mantero, Vittorio ; Peverelli, Lorenzo...
Neurological Sciences. 42 (2021) 12 - p. 5359-5363 , 2021

Link: https://doi.org/10.1007/..

8

Early Findings in Neonatal Cases of RYR1–Related Congenital..:

Mauri, Eleonora ; Piga, Daniela ; Govoni, Alessandra...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

9

MYH2 myopathy, a new case expands the clinical and patholog..:

Telese, Roberta ; Pagliarani, Serena ; Lerario, Alberto...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020

Link: https://doi.org/10.1002/..

10

Sodium Channel Myotonia Due to Novel Mutations in Domain I ..:

Pagliarani, Serena ; Lucchiari, Sabrina ; Scarlato, Marina...
Frontiers in Neurology. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

11

RNAi/gene therapy combined approach as therapeutic strategy..:

Rizzo, Federica ; Bono, Silvia ; Salani, Sabrina...
Neurology. 92 (2019) 15_supplement - p. , 2019

Link: https://doi.org/10.1212/..

12

Glucose-free/high-protein diet improves hepatomegaly and ex..:

Pagliarani, Serena ; Lucchiari, Sabrina ; Ulzi, Gianna...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1864 (2018) 10 - p. 3407-3417 , 2018

Link: https://doi.org/10.1016/..

13

Elucidating the role of Agl in bladder carcinogenesis by ge..:

Sottnik, Joseph L ; Mallaredy, Vandana ; Chauca-Diaz, Ana...
Carcinogenesis. 40 (2018) 1 - p. 194-201 , 2018

Link: https://doi.org/10.1093/..

14

Rescue of GSDIII Phenotype with Gene Transfer Requires Live..:

Vidal, Patrice ; Pagliarani, Serena ; Colella, Pasqualina...
Molecular Therapy. 26 (2018) 3 - p. 890-901 , 2018

Link: https://doi.org/10.1016/..

15

Translational approach to address therapy in myotonia perma..:

Desaphy, Jean-François ; Carbonara, Roberta ; D'Amico, Adele...
Neurology. 86 (2016) 22 - p. 2100-2108 , 2016

Link: https://doi.org/10.1212/..