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🐜
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Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north‐east Italian population sample
8 auth.
M. Mostacciuolo,
E. Pastorello,
G. Vazza,
M. Miorin,
C. Angelini,
G. Tomelleri,
...
G. Galluzzi,
C. Trevisan
|
7 |
2009 |
7
🐜
|
|
🐜
|
A locus for migraine without aura maps on chromosome 14q21.2-q22.3.
10 auth.
D. Soragna,
A. Vettori,
Gianni Carraro,
E. Marchioni,
G. Vazza,
S. Bellini,
...
R. Tupler,
R. Tupler,
F. Savoldi,
M. Mostacciuolo
|
6 |
2003 |
6
🐜
|
|
🐢
|
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
19 auth.
E. Gregianin,
G. Pallafacchina,
S. Zanin,
V. Crippa,
P. Rusmini,
A. Poletti,
M. Fang,
Zhouxuan Li,
L. Diano,
A. Petrucci,
...
L. Lispi,
T. Cavallaro,
G. Fabrizi,
M. Muglia,
F. Boaretto,
A. Vettori,
R. Rizzuto,
M. Mostacciuolo,
G. Vazza
|
6 |
2016 |
6
🐢
|
|
🦁
|
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.
G. Vazza,
M. Zortea,
F. Boaretto,
G. Micaglio,
V. Sartori,
M. Mostacciuolo
|
6 |
2000 |
6
🦁
|
|
🐢
|
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
12 auth.
F. Boaretto,
D. Snijders,
Cecilia Salvoro,
Ambra Spalletta,
M. Mostacciuolo,
M. Collura,
...
S. Cazzato,
Donatella Girosi,
M. Silvestri,
G. Rossi,
A. Barbato,
G. Vazza
|
5 |
2016 |
5
🐢
|
|
🦁
|
Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26
10 auth.
G. Vazza,
C. Bertolin,
E. Scudellaro,
A. Vettori,
F. Boaretto,
Sabina Rampinelli,
...
G. Sanctis,
Giulia Perini,
P. Peruzzi,
M. Mostacciuolo
|
5 |
2007 |
5
🦁
|
|
🐜
|
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
25 auth.
F. Crippa,
Chris Panzeri,
A. Martinuzzi,
Alessia Arnoldi,
F. Redaelli,
A. Tonelli,
C. Baschirotto,
G. Vazza,
M. Mostacciuolo,
A. Daga,
G. Orso,
P. Profice,
A. Trabacca,
M. D'Angelo,
G. Comi,
...
S. Galbiati,
C. Lamperti,
S. Bonato,
M. Pandolfo,
G. Meola,
O. Musumeci,
A. Toscano,
C. Trevisan,
N. Bresolin,
M. Bassi
|
5 |
2006 |
5
🐜
|
|
🐜
|
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy
19 auth.
I. E. L. Mura,
B. Bauce,
A. Nava,
M. Fanciulli,
G. Vazza,
E. Mazzotti,
I. Rigato,
M. Bortoli,
G. Beffagna,
Alessandra Lorenzon,
...
M. Calore,
Emanuela Dazzo,
C. Nobile,
M. Mostacciuolo,
D. Corrado,
C. Basso,
L. Daliento,
G. Thiene,
A. Rampazzo
|
5 |
2013 |
5
🐜
|
|
🐜
|
Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy
8 auth.
A. Vettori,
G. Bergamin,
E. Moro,
G. Vazza,
G. Polo,
N. Tiso,
...
F. Argenton,
M. Mostacciuolo
|
5 |
2011 |
5
🐜
|
