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Author/Creator Politano, Luisa

21. The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel. Issue 9 (4th July 2018)

Authors:
Altamura, Concetta; Lucchiari, Sabrina; Sahbani, Dalila; Ulzi, Gianna; Comi, Giacomo P.; D'Ambrosio, Paola; Petillo, Roberta; Politano, Luisa; Vercelli, Liliana; Mongini, Tiziana; Dotti, Maria Teresa; Cardani, Rosanna; Meola, Giovanni; Lo Monaco, Mauro; Matthews, Emma; Hanna, Michael G.; Carratù,...
Journal:
Human mutation
Issue:
Volume 39:Issue 9(2018)
Page Start:
1273
Record Type:
Journal Article
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22. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. (5th July 2016)

Authors:
Savarese, Marco; Di Fruscio, Giuseppina; Torella, Annalaura; Fiorillo, Chiara; Magri, Francesca; Fanin, Marina; Ruggiero, Lucia; Ricci, Giulia; Astrea, Guja; Passamano, Luigia; Ruggieri, Alessandra; Ronchi, Dario; Tasca, Giorgio; D'Amico, Adele; Janssens, Sandra; Farina, Olimpia; Mutarelli, Margh...
Journal:
Neurology
Issue:
Volume 87:Number 1(2016)
Page Start:
Record Type:
Journal Article
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23. The variability of SMCHD1 gene in FSHD patients: evidence of new mutations. (10th October 2019)

Authors:
Strafella, Claudia; Caputo, Valerio; Galota, Rosaria Maria; Campoli, Giulia; Bax, Cristina; Colantoni, Luca; Minozzi, Giulietta; Orsini, Chiara; Politano, Luisa; Tasca, Giorgio; Novelli, Giuseppe; Ricci, Enzo; Giardina, Emiliano; Cascella, Raffaella
Journal:
Human molecular genetics
Issue:
Volume 28:Number 23(2019)
Page Start:
3912
Record Type:
Journal Article
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