|
🐜
|
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary
28 auth.
S. Dimauro,
G. Davidzon,
M. Hirano,
R. Horvath,
G. Hudson,
G. Ferrari,
N. Fütterer,
S. Ahola,
E. Lamantea,
H. Prokisch,
H. Lochmüller,
R. Mcfarland,
V. Ramesh,
T. Klopstock,
P. Freisinger,
...
F. Salvi,
J. Mayr,
R. Santer,
M. Tesařová,
J. Zeman,
B. Udd,
Robert W. Taylor,
D. Turnbull,
M. Hanna,
D. Fialho,
A. Suomalainen,
M. Zeviani,
P. Chinnery
|
8 |
2006 |
8
🐜
|
|
🐜
|
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
25 auth.
R. Horvath,
G. Hudson,
G. Ferrari,
N. Fütterer,
S. Ahola,
E. Lamantea,
H. Prokisch,
Hanns Lochmüller,
R. Mcfarland,
V. Ramesh,
T. Klopstock,
P. Freisinger,
F. Salvi,
J. Mayr,
R. Santer,
...
M. Tesařová,
J. Zeman,
B. Udd,
Robert W. Taylor,
D. Turnbull,
M. Hanna,
D. Fialho,
A. Suomalainen,
M. Zeviani,
P. Chinnery
|
7 |
2006 |
7
🐜
|
|
🐜
|
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
15 auth.
P. Freisinger,
N. Fütterer,
E. Lankes,
K. Gempel,
T. Berger,
J. Spalinger,
Alexandra Hoerbe,
Claudia Schwantes,
M. Lindner,
R. Santer,
...
M. Burdelski,
H. Schaefer,
B. Setzer,
U. Walker,
R. Horvath
|
6 |
2006 |
6
🐜
|
|
🐜
|
Fatal Neonatal-Onset Mitochondrial Respiratory Chain Disease with T Cell Immunodeficiency
11 auth.
J. Reichenbach,
R. Schubert,
R. Horvath,
J. Petersen,
N. Fütterer,
E. Malle,
...
A. Stumpf,
B. Gebhardt,
U. Koehl,
B. Schraven,
S. Zielen
|
5 |
2006 |
5
🐜
|
|
🐜
|
Clinical spectrum of polymerase-gamma mutation in 9 children
16 auth.
J. Koch,
J. Mayr,
W. Sperl,
B. Plecko,
E. Haberlandt,
D. Karall,
L. Rauter,
R. Schwarz,
A. Tscharre,
H. Lauffer,
...
F. Tegtmayer,
W. Müller-Felber,
W. Röschinger,
N. Fütterer,
P. Freisinger,
R. Horvath
|
0 |
2006 |
0
🐜
|
|
🐬
|
G.P.3 02 Six children with early-onset mitochondrial encephalomyopathy and one heterozygous pathogenic mutation in POLG1
B. Talim,
N. Fütterer,
B. Plecko,
G. Kale,
H. Topaloğlu,
R. Horvath
|
0 |
2006 |
0
🐬
|
