|
🐜
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Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
27 auth.
J. Baets,
X. Duan,
Yanhong Wu,
Gordon A. Smith,
W. Seeley,
I. Mademan,
N. Mcgrath,
N. Beadell,
J. Khoury,
M. Botuyan,
G. Mer,
G. Worrell,
K. Hojo,
J. Deleon,
M. Laurá,
...
Yo-Tsen Liu,
J. Senderek,
J. Weis,
P. V. D. Van den Bergh,
S. Merrill,
M. Reilly,
H. Houlden,
M. Grossman,
S. Scherer,
P. de Jonghe,
P. Dyck,
C. Klein
|
6 |
2015 |
6
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|
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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
23 auth.
U. Kornak,
I. Mademan,
M. Schinke,
M. Voigt,
P. Krawitz,
J. Hecht,
F. Barvencik,
T. Schinke,
Sebastian Giesselmann,
F. Beil,
...
A. Pou-Serradell,
J. Vílchez,
C. Beetz,
T. Deconinck,
V. Timmerman,
C. Kaether,
P. de Jonghe,
C. Hübner,
A. Gal,
M. Amling,
S. Mundlos,
J. Baets,
I. Kurth
|
6 |
2014 |
6
🐜
|
|
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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
23 auth.
P. Tsai,
B. Soong,
I. Mademan,
Yen‐Hua Huang,
Chia-Rung Liu,
C. Hsiao,
Hung-Ta Wu,
Tze-tze Liu,
Yo-Tsen Liu,
Yen-Ting Tseng,
...
Kon-Ping Lin,
Ueng-Cheng Yang,
K. Chung,
Byung-Ok Choi,
G. Nicholson,
M. Kennerson,
Chih-Chiang Chan,
P. de Jonghe,
Tzu-Hao Cheng,
Y. Liao,
S. Züchner,
J. Baets,
Yi-Chung Lee
|
6 |
2017 |
6
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|
|
🐜
|
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
26 auth.
Danique Beijer,
Hong-Joo Kim,
Lin Guo,
K. O’Donovan,
I. Mademan,
T. Deconinck,
K. Van Schil,
C. Fare,
L. Drake,
A. F. Ford,
A. Kochański,
D. Kabzińska,
Nicolas Dubuisson,
P. V. D. Van den Bergh,
N. Voermans,
...
R. Lemmers,
S. M. van der Maarel,
D. Bonner,
J. Sampson,
M. Wheeler,
A. Mehrabyan,
Steven Palmer,
P. de Jonghe,
J. Shorter,
J. Taylor,
J. Baets
|
5 |
2021 |
5
🐜
|
|
🦁
|
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
10 auth.
I. Mademan,
T. Deconinck,
A. Dinopoulos,
T. Voit,
U. Schara,
K. Devriendt,
...
B. Meijers,
E. Lerut,
P. de Jonghe,
J. Baets
|
5 |
2013 |
5
🦁
|
|
🦁
|
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
21 auth.
I. Mademan,
F. Harmuth,
I. Giordano,
D. Timmann,
S. Magri,
T. Deconinck,
J. Claassen,
Daniel Jokisch,
G. Genc,
D. D. Di Bella,
...
S. Romito,
R. Schüle,
S. Züchner,
F. Taroni,
T. Klockgether,
L. Schöls,
P. de Jonghe,
P. Bauer,
Eoa Consortium,
J. Baets,
M. Synofzik
|
5 |
2016 |
5
🦁
|
|
🐜
|
A novel AARS mutation in a family with dominant myeloneuropathy
9 auth.
W. Motley,
L. Griffin,
I. Mademan,
J. Baets,
E. De Vriendt,
P. de Jonghe,
...
A. Antonellis,
A. Jordanova,
S. Scherer
|
5 |
2015 |
5
🐜
|
|
🐜
|
Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy
19 auth.
Jamie A. Abbott,
Rebecca Meyer-Schuman,
V. Lupo,
S. Feely,
I. Mademan,
Stephanie N. Oprescu,
L. Griffin,
M. A. Albertí,
Carlos Casasnovas,
S. Aharoni,
...
L. Basel‐Vanagaite,
S. Züchner,
P. Jonghe,
J. Baets,
M. Shy,
C. Espinós,
B. Demeler,
A. Antonellis,
C. Francklyn
|
4 |
2018 |
4
🐜
|
