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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
|
8 |
2016 |
8
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Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2
12 auth.
Hamid Hamzeiy,
Doruk Savaş,
Ceren Tunca,
N. Şen,
Aslı Gündoğdu Eken,
Irmak Şahbaz,
...
D. Calini,
C. Tiloca,
N. Ticozzi,
A. Ratti,
V. Silani,
A. Başak
|
4 |
2018 |
4
🐜
|
|
🦁
|
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree
9 auth.
Ceren Tunca,
F. Akçimen,
Cemre Coşkun,
Aslı Gündoğdu-Eken,
Cemile Koçoğlu,
B. Çevik,
...
C. Bekircan-Kurt,
E. Tan,
A. Başak
|
4 |
2018 |
4
🦁
|
|
🐜
|
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?
34 auth.
Gijs H. P. Tazelaar,
W. van Rheenen,
S. Pulit,
Rick A. A. van der Spek,
Annelot M. Dekker,
M. Moisse,
R. Mclaughlin,
W. Sproviero,
K. Kenna,
M. Kooyman,
P. T. V. van Doormaal,
Kristel van Eijk,
Bas M Middelkoop,
Raymond D. Schellevis,
W. Brands,
...
A. Al-Chalabi,
K. Morrison,
P. Shaw,
C. Shaw,
S. Newhouse,
M. V. van Es,
A. Başak,
F. Akçimen,
Cemile Koçoğlu,
Ceren Tunca,
M. Povedano,
J. Mora,
J. Glass,
P. van Damme,
W. Robberecht,
Orla HardimanMD,
J. Landers,
L. H. van den Berg,
J. Veldink
|
4 |
2018 |
4
🐜
|
|
🐜
|
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
17 auth.
Yalda Forouhideh,
Kathrin Müller,
W. Ruf,
Muhannad Assi,
Tuncay Şeker,
Ceren Tunca,
Antje Knehr,
T. Strom,
M. Gorges,
F. Schradt,
...
T. Meitinger,
A. Ludolph,
E. Pinkhardt,
A. Başak,
J. Kassubek,
I. Uttner,
Jochen H Weishaupt
|
4 |
2019 |
4
🐜
|
|
🦁
|
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
43 auth.
Ceren Tunca,
Tuncay Şeker,
F. Akçimen,
Cemre Coşkun,
Elif Bayraktar,
R. Palvadeau,
Seyit Zor,
Cemile Koçoğlu,
Ece Kartal,
N. Şen,
Hamid Hamzeiy,
Aslıhan Özoğuz Erimiş,
Utku Norman,
Oguzhan Karakahya,
Gulden Olgun,
...
Tahsin Akgün,
H. Durmuş,
Erdi Şahin,
A. Çakar,
Esra Başar Gürsoy,
Gülsen Babacan Yıldız,
B. Isak,
K. Uluç,
H. Hanagasi,
B. Bilgiç,
N. Turgut,
F. Aysal,
M. Ertaş,
C. Boz,
D. Kotan,
H. Idrisoğlu,
A. Soysal,
Nurten Uzun Adatepe,
M. Akalın,
F. Koç,
E. Tan,
P. Oflazer,
F. Deymeer,
Ö. Taştan,
A. E. Cicek,
Erşen Kavak,
Y. Parman,
A. Başak
|
3 |
2020 |
3
🦁
|
|
🐜
|
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
72 auth.
A. Vural,
G. Şimşir,
Ş. Tekgül,
Cemile Koçoğlu,
F. Akçimen,
Ece Kartal,
N. Şen,
Suna Lahut,
Özgür Ömür,
Nazan Saner,
Tuğçe Gül,
Elif Bayraktar,
R. Palvadeau,
Ceren Tunca,
C. Pirkevi Çetinkaya,
...
Aslı Gündoğdu Eken,
Irmak Şahbaz,
Müge Kovancılar Koç,
Özgür Öztop Çakmak,
H. Hanagasi,
B. Bilgiç,
M. Eraksoy,
A. Gündüz,
H. Apaydin,
G. Kızıltan,
S. Özekmekçi,
A. Siva,
A. Altıntaş,
Zeynep E. Kaya Güleç,
Y. Parman,
P. Oflazer,
F. Deymeer,
H. Durmuş,
Erdi Şahin,
A. Çakar,
Zeynep Tüfekçioğlu,
Pınar Tektürk,
M. Corbali,
H. Tireli,
G. Akdal,
U. Yiş,
S. Hiz,
I. Şengün,
E. Bora,
G. Serdaroğlu,
Sevda Erer Özbek,
K. Ağan,
Dilek İnce Günal,
Ö. Us,
S. Kurt,
D. Aksoy,
Ayşe Bora Tokçaer,
Muhsin Elmas,
M. Gültekin,
S. Kumandas,
H. Acer,
G. D. Kaya Özçora,
V. Yayla,
A. Soysal,
G. Genc,
H. Güllüoğlu,
D. Kotan,
Zeynep Özözen Ayas,
H. Sahin,
E. Tan,
M. Topçu,
Esen Saka Topçuoğlu,
C. Akbostancı,
F. Koç,
S. Ertan,
B. Elibol,
A. Başak
|
3 |
2021 |
3
🐜
|
|
🐜
|
Clinical and molecular characterization and response to acitretin in three families with Sjögren‐Larsson syndrome
8 auth.
S. Vural,
A. Vural,
F. Akçimen,
I. Bağcı,
Ceren Tunca,
Aslı Gündoğdu Eken,
...
T. Ruzicka,
A. Başak
|
3 |
2018 |
3
🐜
|
|
🐬
|
A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy
N. H. Akçakaya,
Z. Yapıcı,
Ceren Tunca,
Pınar Tektürk,
F. Akçimen,
A. Başak
|
2 |
2017 |
2
🐬
|
