|
๐
|
A Gene Network Regulating Lysosomal Biogenesis and Function
14 auth.
Marco Sardiello,
M. Palmieri,
Alberto di Ronza,
D. Medina,
M. Valenza,
V. Gennarino,
Chiara Di Malta,
Francesca Donaudy,
V. Embrione,
R. Polishchuk,
...
S. Banfi,
G. Parenti,
E. Cattaneo,
A. Ballabio
|
11 |
2009 |
11
๐
|
|
๐ฆ
|
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
19 auth.
Francesca Donaudy,
R. Snoeckx,
M. Pfister,
H. Zenner,
N. Blin,
M. Di Stazio,
Antonella Ferrara,
C. Lanzara,
R. Ficarella,
F. Declau,
...
C. Pusch,
P. Nรผrnberg,
S. Melchionda,
L. Zelante,
E. Ballana,
X. Estivill,
G. Van Camp,
P. Gasparini,
A. Savoia
|
7 |
2004 |
7
๐ฆ
|
|
๐
|
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness
16 auth.
R. Ficarella,
F. Leva,
M. Bortolozzi,
S. Ortolano,
Francesca Donaudy,
M. Petrillo,
S. Melchionda,
Andrea Lelli,
T. Domi,
L. Fedrizzi,
...
D. Lim,
Ge Shull,
Paolo Gasparini,
M. Brini,
F. Mammano,
E. Carafoli
|
6 |
2007 |
6
๐
|
|
๐ฆ
|
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
10 auth.
Francesca Donaudy,
Antonella Ferrara,
L. Esposito,
R. Hertzano,
Orit Ben-David,
R. E. Bell,
...
S. Melchionda,
L. Zelante,
K. Avraham,
P. Gasparini
|
6 |
2003 |
6
๐ฆ
|
|
๐
|
Pharmacological Enhancement of Mutated ฮฑ-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.
15 auth.
G. Parenti,
A. Zuppaldi,
M. Gabriela Pittis,
M. Rosaria Tuzzi,
Ida Annunziata,
G. Meroni,
Caterina Porto,
Francesca Donaudy,
B. Rossi,
M. Rossi,
...
M. Filocamo,
A. Donati,
B. Bembi,
A. Ballabio,
G. Andria
|
6 |
2007 |
6
๐
|
|
๐
|
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts
10 auth.
M. Cardone,
Caterina Porto,
Antonietta Tarallo,
M. Vicinanza,
B. Rossi,
E. Polishchuk,
...
Francesca Donaudy,
G. Andria,
M. D. De Matteis,
G. Parenti
|
6 |
2008 |
6
๐
|
|
๐
|
The pharmacological chaperone 1โdeoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alphaโglucosidase
16 auth.
J. Flanagan,
B. Rossi,
K. Tang,
Xiaoyang Wu,
K. Mascioli,
Francesca Donaudy,
M. Tuzzi,
Federica Fontana,
M. Cubellis,
Caterina Porto,
...
E. Benjamin,
D. Lockhart,
K. Valenzano,
G. Andria,
G. Parenti,
H. Do
|
6 |
2009 |
6
๐
|
|
๐ฆ
|
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation
9 auth.
Francesca Donaudy,
Lili Zheng,
R. Ficarella,
Ester Ballana,
Massimo Carella,
S. Melchionda,
...
Xavier Estivill,
J. Bartles,
Paolo Gasparini
|
6 |
2005 |
6
๐ฆ
|
|
๐
|
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
15 auth.
G. Parenti,
A. Zuppaldi,
M. Gabriela Pittis,
M. Rosaria Tuzzi,
Ida Annunziata,
G. Meroni,
Caterina Porto,
Francesca Donaudy,
B. Rossi,
M. Rossi,
...
M. Filocamo,
A. Donati,
B. Bembi,
A. Ballabio,
G. Andria
|
5 |
2007 |
5
๐
|
|
๐
|
Are MYO1C and MYO1F associated with hearing loss?
13 auth.
Cristina Zadro,
Maria Stella Alemanno,
E. Bellacchio,
R. Ficarella,
Francesca Donaudy,
S. Melchionda,
L. Zelante,
R. Rabionet,
N. Hilgert,
X. Estivill,
...
G. Van Camp,
P. Gasparini,
M. Carella
|
5 |
2009 |
5
๐
|
|
๐ฌ
|
Isolation and distribution of 1-methyl-5-thiol-l-histidine disulphide and a related metabolite in eggs from echinoderms
A. Palumbo,
G. Misuraca,
M. dโIschia,
Francesca Donaudy,
G. Prota
|
4 |
1984 |
4
๐ฌ
|
