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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
177 auth.
W. van Rheenen,
A. Shatunov,
Annelot M. Dekker,
R. Mclaughlin,
F. Diekstra,
S. Pulit,
Rick A. A. van der Spek,
U. Võsa,
S. de Jong,
M. Robinson,
Jian Yang,
I. Fogh,
P. T. V. van Doormaal,
Gijs H. P. Tazelaar,
M. Koppers,
...
A. Blokhuis,
W. Sproviero,
Ashley R. Jones,
K. Kenna,
K. V. van Eijk,
O. Harschnitz,
Raymond D. Schellevis,
W. Brands,
J. Medić,
A. Menelaou,
A. Vajda,
N. Ticozzi,
Kuang Lin,
B. Rogelj,
Katarina Vrabec,
M. Ravnik-Glavač,
B. Koritnik,
J. Zidar,
L. Leonardis,
L. D. Grošelj,
S. Millecamps,
F. Salachas,
V. Meininger,
M. de Carvalho,
S. Pinto,
J. Mora,
R. Rojas‐García,
M. Polak,
S. Chandran,
Shuna Colville,
R. Swingler,
K. Morrison,
P. Shaw,
J. Hardy,
R. Orrell,
A. Pittman,
K. Sidle,
P. Fratta,
A. Malaspina,
S. Topp,
S. Petri,
S. Abdulla,
C. Drepper,
M. Sendtner,
T. Meyer,
R. Ophoff,
K. Staats,
M. Wiedau-Pazos,
C. lomen-Hoerth,
V. V. Van Deerlin,
J. Trojanowski,
L. Elman,
L. McCluskey,
A. Başak,
Ceren Tunca,
Hamid Hamzeiy,
Y. Parman,
T. Meitinger,
P. Lichtner,
Milena Radivojkov-Blagojević,
C. Andres,
Cindy Maurel,
G. Bensimon,
B. Landwehrmeyer,
A. Brice,
C. Payan,
Safa Saker-Delye,
A. Dürr,
N. Wood,
L. Tittmann,
W. Lieb,
A. Franke,
M. Rietschel,
S. Cichon,
M. Nöthen,
P. Amouyel,
C. Tzourio,
J. Dartigues,
A. Uitterlinden,
F. Rivadeneira,
K. Estrada,
A. Hofman,
C. Curtis,
H. Blauw,
A. J. van der Kooi,
M. de Visser,
A. Goris,
Markus Weber,
C. Shaw,
Bradley N. Smith,
O. Pansarasa,
Cristina Cereda,
R. del Bo,
G. Comi,
S. D'alfonso,
C. Bertolin,
G. Soraru',
L. Mazzini,
V. Pensato,
C. Gellera,
C. Tiloca,
A. Ratti,
A. Calvo,
C. Moglia,
M. Brunetti,
S. Arcuti,
R. Capozzo,
C. Zecca,
C. Lunetta,
S. Penco,
N. Riva,
A. Padovani,
M. Filosto,
B. Muller,
Robbert Jan Stuit,
I. Blair,
Katharine Y. Zhang,
E. McCann,
J. Fifita,
G. Nicholson,
D. Rowe,
R. Pamphlett,
M. Kiernan,
J. Grosskreutz,
O. Witte,
T. Ringer,
T. Prell,
B. Stubendorff,
I. Kurth,
C. Hübner,
P. Leigh,
F. Casale,
A. Chiò,
E. Beghi,
E. Pupillo,
R. Tortelli,
G. Logroscino,
J. Powell,
A. Ludolph,
Jochen H Weishaupt,
W. Robberecht,
P. van Damme,
L. Franke,
T. Pers,
Robert H. Brown,
J. Glass,
J. Landers,
O. Hardiman,
P. Andersen,
P. Corcia,
P. Vourc'h,
V. Silani,
N. Wray,
P. Visscher,
P. D. de Bakker,
M. V. van Es,
R. Pasterkamp,
C. Lewis,
G. Breen,
A. Al-Chalabi,
L. H. van den Berg,
J. Veldink
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8 |
2016 |
8
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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
42 auth.
A. Cortese,
S. Tozza,
W. Y. Yau,
S. Rossi,
S. Beecroft,
Z. Jaunmuktane,
Zoe Dyer,
G. Ravenscroft,
P. Lamont,
S. Mossman,
A. Chancellor,
T. Maisonobe,
Y. Péréon,
C. Cauquil,
S. Colnaghi,
...
G. Mallucci,
R. Currò,
P. Tomaselli,
Gilbert Thomas-Black,
Roisin Sullivan,
S. Efthymiou,
A. Rossor,
M. Laurá,
M. Pipis,
A. Horga,
J. Polke,
D. Kaski,
R. Horvath,
P. Chinnery,
W. Marques,
C. Tassorelli,
G. Devigili,
L. Leonardis,
N. Wood,
A. Bronstein,
P. Giunti,
S. Züchner,
T. Stojkovic,
N. Laing,
R. Roxburgh,
H. Houlden,
M. Reilly
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7 |
2020 |
7
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Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
20 auth.
C. Guelly,
P. Zhu,
L. Leonardis,
L. Papić,
J. Zidar,
Maria Schabhüttl,
H. Strohmaier,
J. Weis,
T. Strom,
J. Baets,
...
Jan Willems,
P. de Jonghe,
M. Reilly,
E. Fröhlich,
Martina Hatz,
S. Trajanoski,
T. Pieber,
A. Janecke,
C. Blackstone,
M. Auer-Grumbach
|
7 |
2011 |
7
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|
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Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred
9 auth.
D. Butinar,
J. Zidar,
L. Leonardis,
M. Popović,
L. Kalaydjieva,
D. Angelicheva,
...
Y. Sininger,
B. Keats,
A. Starr
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6 |
1999 |
6
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|
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Reference values for jitter recorded by concentric needle electrodes in healthy controls: A multicenter study
13 auth.
E. Stålberg,
D. Sanders,
Sajjad Ali,
G. Cooray,
L. Leonardis,
Sissel Löseth,
F. Machado,
Antonio Maldonado,
Carmen Martínez-Aparicio,
A. Sandberg,
...
Benn Smith,
J. Widenfalk,
João Aris Kouyoumdjian
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6 |
2016 |
6
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Differential expression of microRNAs and other small RNAs in muscle tissue of patients with ALS and healthy age-matched controls
8 auth.
A. Kovanda,
L. Leonardis,
J. Zidar,
B. Koritnik,
L. Dolenc-Grošelj,
Stanislava Ristic Kovacic,
...
Tomaž Curk,
B. Rogelj
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5 |
2018 |
5
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
60 auth.
J. Alonso-Pérez,
L. Gonzalez-Quereda,
L. Bello,
M. Guglieri,
V. Straub,
P. Gallano,
C. Semplicini,
E. Pegoraro,
V. Zangaro,
A. Nascimento,
C. Ortez,
G. Comi,
L. Ten Dam,
M. de Visser,
A. J. van der Kooi,
...
C. Garrido,
Manuela Santos,
U. Schara,
A. Gangfuss,
N. Løkken,
J. Storgaard,
J. Vissing,
B. Schoser,
G. Dekomien,
B. Udd,
J. Palmio,
A. D’Amico,
L. Politano,
V. Nigro,
C. Bruno,
C. Panicucci,
A. Sarkozy,
O. Abdel-mannan,
A. Alonso-Jimenez,
K. Claeys,
D. Gómez-Andrés,
F. Munell,
L. Costa-Comellas,
J. Haberlova,
Marie Rohlenová,
De Vos Elke,
J. D. De Bleecker,
C. Domínguez-González,
G. Tasca,
C. Weiss,
N. Deconinck,
R. Fernández-Torrón,
A. López de Munain,
A. Camacho-Salas,
B. Melegh,
K. Hadzsiev,
L. Leonardis,
B. Koritnik,
M. Garibaldi,
Juan C de León-Hernández,
E. Malfatti,
A. Fraga-Bau,
I. Richard,
I. Illa,
J. Díaz-Manera
|
5 |
2020 |
5
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|
|
🐜
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Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients
9 auth.
Katarina Vrabec,
E. Boštjančič,
B. Koritnik,
L. Leonardis,
Leja Dolenc Grošelj,
J. Zidar,
...
B. Rogelj,
D. Glavač,
M. Ravnik-Glavač
|
5 |
2018 |
5
🐜
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|
🐜
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Single fiber EMG as a prognostic tool in myasthenia gravis
8 auth.
M. Baruca,
L. Leonardis,
S. Podnar,
T. Hojs-Fabjan,
A. Grad,
A. Jerin,
...
R. Blagus,
Saša Šega-Jazbec
|
4 |
2016 |
4
🐜
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|
🐜
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Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population
11 auth.
Katarina Vrabec,
B. Koritnik,
L. Leonardis,
L. Dolenc-Grošelj,
J. Zidar,
Bradley N. Smith,
...
C. Vance,
C. Shaw,
B. Rogelj,
D. Glavač,
M. Ravnik-Glavač
|
4 |
2015 |
4
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