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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

Human leukocyte antigen variants associate with BNT162b2 mR..:

Esposito, Martina ; Minnai, Francesca ; Copetti, Massimiliano...
Communications Medicine. 4 (2024) 1 - p. , 2024

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

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

Salbutamol as effective treatment in slow-channel syndrome-..:

Santovito, Luca Spiro ; Brugnoni, Raffaella ; Banfi, Paolo.
Neurological Sciences. 42 (2020) 4 - p. 1611-1612 , 2020

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

9

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/..

10

Italian recommendations for diagnosis and management of con..:

Maggi, Lorenzo ; Bernasconi, Pia ; D'Amico, Adele...
Neurological Sciences. 40 (2018) 3 - p. 457-468 , 2018

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

11

Coexistence of CLCN1 and SCN4A mutations in one family suff..:

Maggi, Lorenzo ; Ravaglia, Sabrina ; Farinato, Alessandro...
neurogenetics. 18 (2017) 4 - p. 219-225 , 2017

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

12

Multidisciplinary study of a new CIC‐1 mutation causing myo..:

Imbrici, Paola ; Altamura, Concetta ; Camerino, Giulia Maria...
The FASEB Journal. 30 (2016) 10 - p. 3285-3295 , 2016

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

13

Double‐trouble in pediatric neurology: Myotonia congenita c..:

Ardissone, Anna ; Brugnoni, Raffaella ; Gandioli, Claudia...
Muscle & Nerve. 50 (2014) 1 - p. 145-147 , 2014

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

14

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/..

15

Identification of previously unreported mutations in CHRNA1..:

Brugnoni, Raffaella ; Maggi, Lorenzo ; Canioni, Eleonora...
Journal of Neurology. 257 (2010) 7 - p. 1119-1123 , 2010

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

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