|
🐜
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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
39 auth.
J. Senderek,
Juliane S. Müller,
M. Dusl,
T. Strom,
V. Guergueltcheva,
I. Diepolder,
S. Laval,
S. Maxwell,
J. Cossins,
S. Krause,
N. Muelas,
J. Vílchez,
J. Colomer,
C. J. Mallebrera,
A. Nascimento,
...
S. Nafissi,
A. Kariminejad,
Y. Nilipour,
B. Bozorgmehr,
H. Najmabadi,
C. Rodolico,
J. Sieb,
O. Steinlein,
B. Schlotter,
B. Schoser,
J. Kirschner,
R. Herrmann,
T. Voit,
A. Oldfors,
C. Lindbergh,
A. Urtizberea,
M. von der Hagen,
A. Hübner,
Jacqueline A Palace,
K. Bushby,
V. Straub,
D. Beeson,
A. Abicht,
Hanns Lochmüller
|
7 |
2011 |
7
🐜
|
|
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Congenital myasthenic syndromes: Achievements and limitations of phenotype‐guided gene‐after‐gene sequencing in diagnostic practice: A study of 680 patients
14 auth.
A. Abicht,
M. Dusl,
C. Gallenmüller,
V. Guergueltcheva,
U. Schara,
A. Della Marina,
E. Wibbeler,
Sybille Almaras,
V. Mihaylova,
M. von der Hagen,
...
A. Huebner,
A. Chaouch,
Juliane S. Müller,
H. Lochmüller
|
6 |
2012 |
6
🐜
|
|
🐜
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
99 auth.
A. Töpf,
Katherine Johnson,
Adam K. Bates,
L. Phillips,
K. Chao,
E. England,
Kristen M. Laricchia,
T. Mullen,
E. Valkanas,
Liwen Xu,
M. Bertoli,
A. Blain,
A. Casasús,
J. Duff,
M. Mroczek,
...
S. Specht,
M. Lek,
M. Ensini,
D. MacArthur,
E. Akay,
J. Alonso-Pérez,
J. Baets,
N. Barišić,
A. Bastian,
S. Borell,
T. Chamova,
K. Claeys,
J. Colomer,
S. Coppens,
N. Deconinck,
W. De Ridder,
J. Díaz-Manera,
C. Domínguez-González,
A. Duncan,
H. Durmuş,
Nagia Fahmy,
M. Farrugia,
R. Fernández-Torrón,
L. Gonzalez-Quereda,
J. Haberlova,
M. von der Hagen,
A. Hahn,
A. Jakovčević,
I. Jericó Pascual,
S. Kapetanovic,
V. Ķēniņa,
J. Kirschner,
A. Klein,
H. Kölbel,
A. Kostera-Pruszczyk,
R. Kulshrestha,
J. Lähdetie,
M. Layegh,
C. Longman,
A. López de Munain,
W. Loscher,
A. Lusakowska,
P. Maddison,
A. Magot,
A. Majumdar,
P. Martí,
A. Martínez Arroyo,
R. Mazanec,
S. Mercier,
T. Mongini,
N. Muelas,
A. Nascimento,
S. Nafissi,
S. Omidi,
C. Ortez,
S. Paquay,
Y. Péréon,
S. Perić,
V. Ponzalino,
V. R. Rakočević Stojanović,
G. Remiche,
Aida Rodríguez Sainz,
Sabine Rudnik,
Iciar Sanchez Albisua,
Manuela Santos,
U. Schara,
A. Shatillo,
J. Sertić,
U. Stephani,
S. Strang-Karlsson,
Y. Sznajer,
Ani Tanev,
I. Tournev,
P. V. D. Van den Bergh,
V. Van Parijs,
J. Vílchez,
K. Vill,
J. Vissing,
C. Wallgren‐Pettersson,
J. Wanschitz,
T. Willis,
N. Witting,
M. Zulaica,
V. Straub
|
6 |
2020 |
6
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|
🐜
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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
63 auth.
M. Guglieri,
K. Bushby,
M. Mcdermott,
K. Hart,
R. Tawil,
W. Martens,
B. Herr,
E. McColl,
C. Speed,
J. Wilkinson,
J. Kirschner,
W. King,
M. Eagle,
Mary W. Brown,
T. Willis,
...
R. Griggs,
V. Straub,
H. van Ruiten,
A. Childs,
E. Ciafaloni,
P. Shieh,
S. Spinty,
L. Maggi,
G. Baranello,
R. Butterfield,
I. Horrocks,
H. Roper,
Z. Alhaswani,
K. Flanigan,
N. Kuntz,
A. Manzur,
B. Darras,
P. Kang,
L. Morrison,
Monika Krzesniak‐Swinarska,
J. Mah,
T. Mongini,
F. Ricci,
M. von der Hagen,
R. Finkel,
K. O'Reardon,
M. Wicklund,
Ashutosh Kumar,
C. McDonald,
Jay J. Han,
N. Joyce,
E. Henricson,
U. Schara-Schmidt,
A. Gangfuss,
E. Wilichowski,
R. Barohn,
J. Statland,
C. Campbell,
G. Vita,
G. Vita,
J. Howard,
I. Hughes,
H. McMillan,
E. Pegoraro,
L. Bello,
W. Burnette,
M. Thangarajh,
Taeun Chang
|
6 |
2022 |
6
🐜
|
|
🐜
|
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission
25 auth.
A. Chaouch,
Vito Porcelli,
D. Cox,
Shimon Edvardson,
P. Scarcia,
Anna De Grassi,
C. Pierri,
J. Cossins,
S. Laval,
H. Griffin,
Juliane S. Müller,
T. Evangelista,
A. Töpf,
A. Abicht,
A. Huebner,
...
M. von der Hagen,
K. Bushby,
V. Straub,
R. Horvath,
O. Elpeleg,
Jacqueline A Palace,
J. Senderek,
D. Beeson,
L. Palmieri,
Hanns Lochmüller
|
6 |
2016 |
6
🐜
|
|
🐢
|
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.
9 auth.
U. Schara,
W. Kress,
C. Bönnemann,
N. Breitbach-Faller,
C. Korenke,
G. Schreiber,
...
M. Stoetter,
A. Ferreiro,
M. von der Hagen
|
6 |
2008 |
6
🐢
|
|
🐜
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Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
30 auth.
C. Weiss,
A. Ziegler,
L. Becker,
J. Johannsen,
H. Brennenstuhl,
G. Schreiber,
M. Flotats-Bastardas,
C. Stoltenburg,
H. Hartmann,
S. Illsinger,
J. Denecke,
A. Pechmann,
W. Müller-Felber,
K. Vill,
A. Blaschek,
...
M. Smitka,
Lieske van der Stam,
K. Weiss,
B. Winter,
K. Goldhahn,
B. Plecko,
V. Horber,
G. Bernert,
R. Husain,
C. Rauscher,
R. Trollmann,
Sven Garbade,
A. Hahn,
M. von der Hagen,
A. Kaindl
|
6 |
2021 |
6
🐜
|
|
🐜
|
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.
47 auth.
M. Guglieri,
K. Bushby,
M. Mcdermott,
K. Hart,
R. Tawil,
W. Martens,
B. Herr,
E. McColl,
J. Wilkinson,
J. Kirschner,
W. King,
M. Eagle,
Mary W. Brown,
T. Willis,
D. Hirtz,
...
P. Shieh,
V. Straub,
A. Childs,
E. Ciafaloni,
R. Butterfield,
I. Horrocks,
S. Spinty,
K. Flanigan,
N. Kuntz,
G. Baranello,
H. Roper,
L. Morrison,
J. Mah,
A. Manzur,
C. McDonald,
U. Schara,
M. von der Hagen,
R. Barohn,
C. Campbell,
B. Darras,
R. Finkel,
G. Vita,
I. Hughes,
T. Mongini,
E. Pegoraro,
M. Wicklund,
E. Wilichowski,
W. Bryan Burnette,
J. Howard,
H. McMillan,
M. Thangarajh,
R. Griggs
|
5 |
2017 |
5
🐜
|
|
🐜
|
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
26 auth.
A. Davidson,
F. Siddiqui,
Michael A. Lopez,
P. Lunt,
H. Carlson,
Brian E. Moore,
S. Love,
D. Born,
H. Roper,
A. Majumdar,
S. Jayadev,
H. Underhill,
Corrine O. Smith,
M. von der Hagen,
A. Hubner,
...
P. Jardine,
A. Merrison,
E. Curtis,
T. Cullup,
H. Jungbluth,
M. Cox,
T. Winder,
Hossam Abdel Salam,
Jun Z. Li,
S. Moore,
J. Dowling
|
5 |
2013 |
5
🐜
|
