🐜
|
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
35 auth.
J. Halter,
W. Michael,
M. Schüpbach,
M. Schüpbach,
H. Mandel,
C. Casali,
K. Orchard,
M. Collin,
D. Valcárcel,
A. Rovelli,
M. Filosto,
M. Dotti,
G. Marotta,
G. Pintos,
P. Barba,
...
A. Accarino,
C. Ferrá,
I. Illa,
Y. Beguin,
J. Bakker,
J. Boelens,
I. Coo,
K. Fay,
C. Sue,
D. Nachbaur,
H. Zoller,
C. Sobreira,
B. Simões,
S. Hammans,
D. Savage,
R. Martí,
P. Chinnery,
R. Elhasid,
A. Gratwohl,
M. Hirano
|
7 |
2015 |
7 🐜
|
🐜
|
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
20 auth.
M. Corbett,
M. Schwake,
M. Bahlo,
L. Dibbens,
L. Dibbens,
Meng-Fei Lin,
Luke C. Gandolfo,
D. Vears,
J. O'Sullivan,
T. Robertson,
...
Marta A. Bayly,
A. Gardner,
A. Vlaar,
G. Korenke,
B. Bloem,
I. Coo,
J. Verhagen,
A. Lehesjoki,
J. Gécz,
S. Berkovic
|
6 |
2011 |
6 🐜
|
🐜
|
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
11 auth.
C. Gelder,
C. I. Capelle,
B. Ebbink,
I. Moor-van Nugteren,
J. Hout,
M. Hakkesteegt,
...
P. Doorn,
I. Coo,
A. Reuser,
H. D. Gier,
A. Ploeg
|
6 |
2011 |
6 🐜
|
🐜
|
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
28 auth.
L. Lomax,
Marta A. Bayly,
H. Hjalgrim,
R. Møller,
A. Vlaar,
K. Aaberg,
I. Marquardt,
Luke C. Gandolfo,
M. Willemsen,
E. Kamsteeg,
J. O'Sullivan,
G. Korenke,
B. Bloem,
I. Coo,
J. Verhagen,
...
Ines Said,
T. Prescott,
A. Stray-Pedersen,
M. Rasmussen,
D. Vears,
A. Lehesjoki,
M. Corbett,
M. Bahlo,
M. Bahlo,
Jozef Gecz,
Jozef Gecz,
L. Dibbens,
S. Berkovic
|
6 |
2013 |
6 🐜
|
🐢
|
Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings
P. Jansen,
M. Knaap,
I. Coo
|
5 |
1996 |
5 🐢
|
🐜
|
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.
7 auth.
P. V. Domburg,
A. Gabreëls-Festen,
F. Gabreëls,
I. Coo,
W. Ruitenbeek,
P. Wesseling,
...
H. Laak
|
5 |
1996 |
5 🐜
|
🐜
|
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
9 auth.
M. C. Wit,
I. Coo,
C. Julier,
M. Delepine,
M. Lequin,
I. Laar,
...
Barbara J. Sibbles,
G. Bruining,
G. Mancini
|
4 |
2006 |
4 🐜
|
🐬
|
Hereditary porencephaly: clinical and MRI findings in two Dutch families.
G. Mancini,
I. Coo,
M. Lequin,
W. Arts
|
4 |
2004 |
4 🐬
|
🐜
|
Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.
19 auth.
J. V. D. Bergen,
H. Ginjaar,
A. Essen,
R. Pangalila,
I. Groot,
P. Wijkstra,
M. Zijnen,
N. Cobben,
M. Kampelmacher,
B. Wokke,
...
I. Coo,
J. Fock,
A. Horemans,
M. V. D. Tol,
E. Vroom,
M. Rijlaarsdam,
C. Straathof,
E. Niks,
J. Verschuuren
|
4 |
2014 |
4 🐜
|