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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
192 auth.
W. V. Rheenen,
Rick A. A. van der Spek,
Mark K. Bakker,
J. Vugt,
P. Hop,
R. Zwamborn,
N. D. Klein,
H. Westra,
O. Bakker,
Patrick Deelen,
Gemma L Shireby,
E. Hannon,
M. Moisse,
D. Baird,
Restuadi Restuadi,
...
E. Dolzhenko,
Annelot M. Dekker,
Klara Gawor,
H. Westeneng,
Gijs H. P. Tazelaar,
K. V. van Eijk,
M. Kooyman,
Ross P. Byrne,
Mark A. Doherty,
M. Heverin,
Ahmad Al Khleifat,
A. Iacoangeli,
A. Shatunov,
N. Ticozzi,
Johnathan Cooper-Knock,
Bradley N. Smith,
M. Gromicho,
S. Chandran,
S. Pal,
K. Morrison,
P. Shaw,
J. Hardy,
R. Orrell,
M. Sendtner,
Thomas Meyer,
Nazlı A Başak,
A. J. van der Kooi,
A. Ratti,
I. Fogh,
C. Gellera,
Giuseppe Lauria Pinter,
S. Corti,
Cristina Cereda,
D. Sproviero,
S. D'alfonso,
G. Soraru',
G. Siciliano,
M. Filosto,
A. Padovani,
A. Chiò,
A. Calvo,
C. Moglia,
M. Brunetti,
A. Canosa,
M. Grassano,
E. Beghi,
E. Pupillo,
G. Logroscino,
B. Nefussy,
Alma Osmanovic,
Angelica Nordin,
Y. Lerner,
Michal Zabari,
M. Gotkine,
R. Baloh,
S. Bell,
P. Vourc'h,
P. Corcia,
P. Couratier,
S. Millecamps,
V. Meininger,
F. Salachas,
J. M. Pardina,
A. Assialioui,
R. Rojas‐García,
P. Dion,
J. Ross,
A. Ludolph,
Jochen H Weishaupt,
David Brenner,
A. Freischmidt,
G. Bensimon,
A. Brice,
A. Dürr,
C. Payan,
Safa Saker-Delye,
N. Wood,
S. Topp,
R. Rademakers,
L. Tittmann,
W. Lieb,
A. Franke,
S. Ripke,
A. Braun,
J. Kraft,
D. Whiteman,
C. Olsen,
A. Uitterlinden,
A. Hofman,
M. Rietschel,
S. Cichon,
M. Nöthen,
P. Amouyel,
B. Traynor,
A. Singleton,
Miguel Mitne Neto,
Ruben J. Cauchi,
R. Ophoff,
M. Wiedau-Pazos,
C. lomen-Hoerth,
V. V. Van Deerlin,
J. Grosskreutz,
A. Rödiger,
N. Gaur,
Alexander Jörk,
Tabea Barthel,
Erik Theele,
B. Ilse,
B. Stubendorff,
O. Witte,
R. Steinbach,
C. Hübner,
C. Graff,
L. Brylev,
V. Fominykh,
V. Demeshonok,
A. Ataulina,
B. Rogelj,
B. Koritnik,
J. Zidar,
M. Ravnik-Glavač,
D. Glavač,
Z. Stevic,
V. Drory,
M. Povedano,
I. Blair,
M. Kiernan,
Beben Benyamin,
R. Henderson,
S. Furlong,
S. Mathers,
P. Mccombe,
M. Needham,
S. Ngo,
G. Nicholson,
R. Pamphlett,
D. Rowe,
F. Steyn,
K. Williams,
K. Mather,
P. Sachdev,
A. Henders,
L. Wallace,
M. Carvalho,
S. Pinto,
S. Petri,
Markus Weber,
G. Rouleau,
V. Silani,
C. Curtis,
G. Breen,
J. Glass,
Robert H. Brown,
J. Landers,
C. Shaw,
P. Andersen,
E. Groen,
M. A. Es,
R. Pasterkamp,
Dongsheng Fan,
F. Garton,
A. McRae,
G. Davey Smith,
T. Gaunt,
M. Eberle,
J. Mill,
R. Mclaughlin,
O. Hardiman,
K. Kenna,
N. Wray,
E. Tsai,
H. Runz,
L. Franke,
A. Al-Chalabi,
P. Damme,
L. H. van den Berg,
J. Veldink
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8 |
2021 |
8
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Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study
32 auth.
T. Hagenacker,
C. Wurster,
R. Günther,
O. Schreiber-Katz,
Alma Osmanovic,
S. Petri,
M. Weiler,
A. Ziegler,
Josua Kuttler,
J. Koch,
I. Schneider,
G. Wunderlich,
N. Schloss,
H. Lehmann,
I. Cordts,
...
M. Deschauer,
P. Lingor,
C. Kamm,
B. Stolte,
Lena Pietruck,
A. Totzeck,
K. Kizina,
C. Mönninghoff,
O. V. Velsen,
C. Ose,
H. Reichmann,
M. Forsting,
A. Pechmann,
J. Kirschner,
A. Ludolph,
A. Hermann,
C. Kleinschnitz
|
7 |
2020 |
7
🐜
|
|
🐜
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Neurofilament light chain in serum of adolescent and adult SMA patients under treatment with nusinersen
16 auth.
C. Wurster,
P. Steinacker,
R. Günther,
J. Koch,
P. Lingor,
Z. Uzelac,
S. Witzel,
K. Wollinsky,
B. Winter,
Alma Osmanovic,
...
O. Schreiber-Katz,
Rami Al Shweiki,
A. Ludolph,
S. Petri,
A. Hermann,
M. Otto
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5 |
2019 |
5
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|
🐜
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Safety and efficacy of rasagiline as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomised, double-blind, parallel-group, placebo-controlled, phase 2 trial
83 auth.
A. Ludolph,
Joachim Schuster,
J. Dorst,
L. Dupuis,
J. Dreyhaupt,
Jochen H Weishaupt,
J. Kassubek,
Ulrike Weiland,
S. Petri,
T. Meyer,
J. Grosskreutz,
B. Schrank,
M. Boentert,
A. Emmer,
A. Hermann,
...
D. Zeller,
J. Prudlo,
A. Winkler,
T. Grehl,
M. Heneka,
S. Johannesen,
B. Göricke,
A. Funke,
D. Kettemann,
R. Meyer,
K. Gruhn,
P. Schwenkreis,
P. Stude,
D. Kurzwelly,
A. Storch,
N. Richter,
T. Frank,
K. Hein,
F. Hanisch,
Dagmar Hanke,
T. Kraya,
A. Posa,
Martina Romanakova,
S. Schilling,
S. Abdulla,
S. Böselt,
Claas Janssen,
Imken Lange,
X. Kobeleva,
S. Körner,
K. Kollewe,
Alma Osmanovic,
N. Scharn,
K. J. Rath,
C. Dahms,
A. Gunkel,
B. Heiling,
T. Ringer,
U. Smesny,
S. Baumeister,
A. Berthele,
S. Bublitz,
E. Akova‐Öztürk,
B. Stubbe-Dräger,
A. Rahmann,
C. Young,
P. Young,
D. Baldaranov,
U. Bogdahn,
A. Khomenko,
W. Schulte-Mattler,
C. Stadler,
Susanne Husung,
Simone Tesar,
Nigar Dargah-Zaden,
C. Last,
Eva Langer,
Ann-Sophie Lauenstein,
Eckard Lensch,
Carolyn Mc Farlane,
Heike Fischer-Brasse,
Klara Orbán,
B. Schrank,
Sonja Schürger,
S. Klebe,
P. Kraft,
T. Musacchio,
C. Seiler
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5 |
2018 |
5
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🦁
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FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study
10 auth.
Alma Osmanovic,
I. Rangnau,
Anne Kosfeld,
S. Abdulla,
Claas Janssen,
B. Auber,
...
P. Raab,
M. Preller,
S. Petri,
R. Weber
|
5 |
2017 |
5
🦁
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|
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Homozygous THAP1 mutations as cause of early‐onset generalized dystonia
14 auth.
S. Schneider,
A. Ramírez,
K. Shafiee,
F. Kaiser,
Alev Erogullari,
N. Brüggemann,
Susen Winkler,
I. Bahman,
Alma Osmanovic,
M. Shafa,
...
K. Bhatia,
H. Najmabadi,
C. Klein,
K. Lohmann
|
5 |
2011 |
5
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|
🐜
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Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
21 auth.
M. Freigang,
C. Wurster,
T. Hagenacker,
B. Stolte,
M. Weiler,
C. Kamm,
O. Schreiber-Katz,
Alma Osmanovic,
S. Petri,
A. Kowski,
...
T. Meyer,
J. Koch,
I. Cordts,
M. Deschauer,
P. Lingor,
Elisa Aust,
Daniel Petzold,
A. Ludolph,
B. Falkenburger,
A. Hermann,
R. Günther
|
5 |
2021 |
5
🐜
|
|
🦁
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Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy
11 auth.
Alma Osmanovic,
Gresa Ranxha,
Mareike Kumpe,
L. Müschen,
Camilla Binz,
Flavia Wiehler,
...
L. Paracka,
S. Körner,
K. Kollewe,
S. Petri,
O. Schreiber-Katz
|
5 |
2020 |
5
🦁
|
|
🐜
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Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives
28 auth.
Pavel Schischlevskij,
I. Cordts,
R. Günther,
B. Stolte,
D. Zeller,
Carsten Schröter,
U. Weyen,
M. Regensburger,
Joachim Wolf,
I. Schneider,
A. Hermann,
Moritz Metelmann,
Z. Kohl,
R. Linker,
J. Koch,
...
C. Stendel,
L. Müschen,
Alma Osmanovic,
Camilla Binz,
T. Klopstock,
J. Dorst,
A. Ludolph,
M. Boentert,
T. Hagenacker,
M. Deschauer,
P. Lingor,
S. Petri,
O. Schreiber-Katz
|
5 |
2021 |
5
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