|
🐜
|
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
22 auth.
S. Züchner,
Irina V. Mersiyanova,
M. Muglia,
N. Bissar‐Tadmouri,
J. Rochelle,
E. Dadali,
M. Zappia,
E. Nelis,
A. Patitucci,
J. Senderek,
...
Y. Parman,
Oleg V. Evgrafov,
P. Jonghe,
Yuji Takahashi,
Shoij Tsuji,
M. Pericak-Vance,
A. Quattrone,
E. Battologlu,
Alexander V. Polyakov,
Vincent Timmerman,
J. Schröder,
Jeffery M. Vance
|
8 |
2004 |
8
🐜
|
|
🐜
|
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
18 auth.
F. Conforti,
R. Spataro,
W. Sproviero,
R. Mazzei,
F. Cavalcanti,
F. Condino,
I. Simone,
G. Logroscino,
A. Patitucci,
A. Magariello,
...
M. Muglia,
C. Rodolico,
P. Valentino,
F. Bono,
T. Colletti,
M. Monsurrò,
A. Gambardella,
V. La Bella
|
6 |
2012 |
6
🐜
|
|
🐜
|
Juvenile Huntington’s disease presenting as progressive myoclonic epilepsy
12 auth.
A. Gambardella,
M. Muglia,
A. Labate,
A. Magariello,
A. Gabriele,
R. Mazzei,
...
D. Pirritano,
F. Conforti,
A. Patitucci,
P. Valentino,
M. Zappia,
A. Quattrone
|
6 |
2001 |
6
🐜
|
|
🐜
|
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
18 auth.
F. Conforti,
T. Sprovieri,
R. Mazzei,
C. Ungaro,
V. Bella,
A. Tessitore,
A. Patitucci,
A. Magariello,
A. Gabriele,
G. Tedeschi,
...
I. Simone,
G. Majorana,
P. Valentino,
F. Condino,
F. Bono,
M. Monsurrò,
M. Muglia,
A. Quattrone
|
5 |
2008 |
5
🐜
|
|
🐜
|
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
12 auth.
M. Muglia,
A. Magariello,
G. Nicoletti,
A. Patitucci,
A. Gabriele,
F. Conforti,
...
R. Mazzei,
M. Caracciolo,
Bonaventura Ardito,
M. Lastilla,
G. Tedeschi,
A. Quattrone
|
5 |
2002 |
5
🐜
|
|
🐜
|
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
17 auth.
R. Mazzei,
F. Conforti,
P. Lanza,
T. Sprovieri,
M. R. Lupo,
O. Gallo,
A. Patitucci,
A. Magariello,
M. Caracciolo,
A. Gabriele,
...
F. Fera,
P. Valentino,
F. Bono,
Giovanna Cenacchi,
G. Santoro,
M. Muglia,
A. Quattrone
|
5 |
2004 |
5
🐜
|
|
🐜
|
FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis
20 auth.
W. Sproviero,
V. Bella,
R. Mazzei,
P. Valentino,
C. Rodolico,
I. Simone,
G. Logroscino,
C. Ungaro,
A. Magariello,
A. Patitucci,
...
G. Tedeschi,
R. Spataro,
F. Condino,
F. Bono,
L. Citrigno,
M. Monsurrò,
M. Muglia,
A. Gambardella,
A. Quattrone,
F. Conforti
|
5 |
2012 |
5
🐜
|
|
🐬
|
A review of the antimicrobial potential of herbal drugs used in popular Italian medicine (1850s-1950s) to treat bacterial skin diseases.
R. Mazzei,
M. Leonti,
Santo Spadafora,
A. Patitucci,
G. Tagarelli
|
5 |
2019 |
5
🐬
|
|
🐜
|
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis
18 auth.
F. Conforti,
W. Sproviero,
I. Simone,
R. Mazzei,
P. Valentino,
C. Ungaro,
A. Magariello,
A. Patitucci,
V. La Bella,
T. Sprovieri,
...
G. Tedeschi,
L. Citrigno,
A. Gabriele,
F. Bono,
M. Monsurrò,
M. Muglia,
A. Gambardella,
A. Quattrone
|
5 |
2010 |
5
🐜
|
