E-LIB Suche - Ergebnisse für: Canioni, Eleonora

1

A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit..:

Campanale, Carmen ; Laghetti, Paola ; Saltarella, Ilaria...
Journal of Neuromuscular Diseases. 11 (2024) 3 - p. 725-734 , 2024

Link: https://doi.org/10.3233/..

2

Coexistence of SCN4A and CLCN1 mutations in a family with a..:

Vacchiano, Veria ; Brugnoni, Raffaella ; Campanale, Carmen...
Experimental Neurology. 362 (2023) - p. 114342 , 2023

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

3

Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome ..:

Brugnoni, Raffaella ; Marelli, Daria ; Iacomino, Nicola...
Genes. 14 (2023) 9 - p. 1753 , 2023

Link: https://doi.org/10.3390/..

4

Toll‐like receptors and IL‐7 as potential biomarkers for im..:

Cappelletti, Cristina ; Brugnoni, Raffaella ; Bonanno, Silvia...
European Journal of Immunology. 53 (2023) 11 - p. , 2023

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

5

Next-generation sequencing application to investigate skele..:

Brugnoni, Raffaella ; Maggi, Lorenzo ; Canioni, Eleonora...
Neuromuscular Disorders. 31 (2021) 4 - p. 336-347 , 2021

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

6

Mutations associated with hypokalemic periodic paralysis: f..:

Brugnoni, Raffaella ; Canioni, Eleonora ; Filosto, Massimiliano...
neurogenetics. 23 (2021) 1 - p. 19-25 , 2021

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

7

Clinical and Molecular Spectrum of Myotonia and Periodic Pa..:

Maggi, Lorenzo ; Brugnoni, Raffaella ; Canioni, Eleonora...
Frontiers in Neurology. 11 (2020) - p. , 2020

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

8

Aging‐associated genes andlet‐7microRNAs: a contribution to..:

Cappelletti, Cristina ; Galbardi, Barbara ; Bruttini, Mirella...
The FASEB Journal. 33 (2019) 6 - p. 7155-7167 , 2019

Link: https://doi.org/10.1096/..

9

Up-regulation of Toll-like receptors 7 and 9 and its potent..:

Cappelletti, Cristina ; Salerno, Franco ; Canioni, Eleonora...
Nucleus. 9 (2018) 1 - p. 398-409 , 2018

Link: https://doi.org/10.1080/..

10

A novel ABCC6 haplotype is associated with azathioprine dru..:

Colleoni, Lara ; Galbardi, Barbara ; Barzago, Claudia...
Pharmacogenetics and Genomics. 27 (2017) 2 - p. 51-56 , 2017

Link: https://doi.org/10.1097/..

11

Biobank of Cells, Tissues and DNA from Patients with Neurom..:

Mora, Marina ; Bragato, Cinzia ; Gibertini, Sara...
Open Journal of Bioresources. 4 (2017) - p. , 2017

Link: https://doi.org/10.5334/..

12

A novel homozygous ISPD gene mutation causing phenotype var..:

Baranello, Giovanni ; Saredi, Simona ; Sansanelli, Serena...
Neuromuscular Disorders. 25 (2015) 1 - p. 55-59 , 2015

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

13

A large cohort of myotonia congenita probands: novel mutati..:

Brugnoni, Raffaella ; Kapetis, Dimos ; Imbrici, Paola...
Journal of Human Genetics. 58 (2013) 9 - p. 581-587 , 2013

Link: https://doi.org/10.1038/..

14

A New Thiopurine S‐Methyltransferase Haplotype Associated W..:

Colleoni, Lara ; Kapetis, Dimos ; Maggi, Lorenzo...
The Journal of Clinical Pharmacology. 53 (2013) 1 - p. 67-74 , 2013

Link: https://doi.org/10.1177/..

15

Sleep breathing disorders in 40 Italian patients with Myoto..:

Pincherle, Alessandro ; Patruno, Vincenzo ; Raimondi, Paola...
Neuromuscular Disorders. 22 (2012) 3 - p. 219-224 , 2012

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