|
🐜
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The ubiquitin pathway in Parkinson's disease
16 auth.
E. Leroy,
R. Boyer,
G. Auburger,
B. Leube,
G. Ulm,
É. Mezey,
G. Harta,
M. Brownstein,
Sobhanadditya Jonnalagada,
Tanya Chernova,
...
A. Dehejia,
C. Lavedan,
T. Gasser,
P. Steinbach,
K. Wilkinson,
M. Polymeropoulos
|
10 |
1998 |
10
🐜
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|
🐬
|
Cloning and tissue expression of two putative steroid membrane receptors.
Dirk Gerdes,
M. Wehling,
B. Leube,
E. Falkenstein
|
7 |
1998 |
7
🐬
|
|
🦁
|
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.
B. Leube,
Doda Rudnicki,
T. Ratzlaff,
K. Kessler,
R. Benecke,
G. Auburger
|
7 |
1996 |
7
🦁
|
|
🐜
|
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
181 auth.
S. Jacquemont,
A. Reymond,
Flore Zufferey,
L. Harewood,
R. Walters,
Z. Kutalik,
D. Martinet,
Yiping Shen,
A. Valsesia,
N. Beckmann,
G. Thorleifsson,
M. Belfiore,
S. Bouquillon,
D. Campion,
N. Leeuw,
...
B. Vries,
T. Esko,
B. Fernandez,
F. Fernández-Aranda,
J. Fernández-Real,
M. Gratacós,
A. Guilmatre,
Juliane Hoyer,
M. Jarvelin,
R. Kooy,
A. Kurg,
C. Caignec,
K. Männik,
O. Platt,
D. Sanlaville,
M. Haelst,
Sergio Gómez,
Faida Walha,
Bai-Lin Wu,
Yongguo Yu,
A. Aboura,
M. Addor,
Y. Alembik,
S. Antonarakis,
B. Arveiler,
M. Barth,
N. Bednarek,
F. Béna,
S. Bergmann,
M. Béri,
L. Bernardini,
B. Blaumeiser,
D. Bonneau,
A. Bottani,
O. Boute,
H. Brunner,
D. Cailley,
P. Callier,
J. Chiésa,
Jacqueline Chrast,
L. Coin,
C. Coutton,
J. Cuisset,
J. Cuvellier,
A. David,
B. Fréminville,
B. Delobel,
M. Delrue,
B. Demeer,
D. Descamps,
Gérard Didelot,
K. Dieterich,
Vittoria Disciglio,
M. Doco‐Fenzy,
S. Drunat,
B. Duban‐Bedu,
C. Dubourg,
J. E. Moustafa,
P. Elliott,
B. Faas,
L. Faivre,
A. Faudet,
F. Fellmann,
A. Ferrarini,
R. Fisher,
E. Flori,
L. Forer,
D. Gaillard,
M. Gérard,
C. Gieger,
S. Gimelli,
G. Gimelli,
H. Grabe,
A. Guichet,
O. Guillin,
A. Hartikainen,
D. Heron,
L. Hippolyte,
M. Holder,
G. Homuth,
B. Isidor,
S. Jaillard,
Z. Jaros,
S. Jiménez-Murcia,
Géraldine Joly Helas,
P. Jonveaux,
Satu Kaksonen,
B. Keren,
A. Kloss-Brandstätter,
N. Knoers,
D. Koolen,
P. Kroisel,
F. Kronenberg,
A. Labalme,
E. Landais,
E. Lapi,
V. Layet,
Solenn Legallic,
B. Leheup,
B. Leube,
S. Lewis,
J. Lucas,
K. Macdermot,
P. Magnússon,
C. Marshall,
M. Mathieu-Dramard,
M. McCarthy,
T. Meitinger,
M. Mencarelli,
G. Merla,
A. Moerman,
V. Mooser,
F. Morice-Picard,
M. Mucciolo,
M. Nauck,
N. Ndiaye,
A. Nordgren,
L. Pasquier,
F. Petit,
R. Pfundt,
G. Plessis,
E. Rajcan-Separovic,
G. Ramelli,
A. Rauch,
R. Ravazzolo,
A. Reis,
A. Renieri,
C. Richart,
J. Ried,
C. Rieubland,
W. Roberts,
K. Roetzer,
C. Rooryck,
M. Rossi,
E. Saemundsen,
V. Satre,
C. Schurmann,
E. Sigurdsson,
D. Stavropoulos,
H. Stefánsson,
C. Tengström,
U. Thorsteinsdóttir,
F. Tinahones,
R. Touraine,
L. Vallée,
E. V. Binsbergen,
N. Aa,
C. Vincent-Delorme,
S. Visvikis-Siest,
P. Vollenweider,
H. Völzke,
A. V. Silfhout,
G. Waeber,
C. Wallgren‐Pettersson,
R. Witwicki,
Simon Zwolinksi,
J. Andrieux,
X. Estivill,
J. Gusella,
Ó. Gústafsson,
A. Metspalu,
S. Scherer,
K. Stefánsson,
A. Blakemore,
J. Beckmann,
P. Froguel
|
7 |
2021 |
7
🐜
|
|
🐜
|
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.
12 auth.
G. Auburger,
T. Ratzlaff,
A. Lunkes,
H. Nelles,
B. Leube,
F. Binkofski,
...
H. Kugel,
W. Heindel,
R. Seitz,
R. Benecke,
O. Witte,
T. Voit
|
7 |
1996 |
7
🐜
|
|
🐜
|
Mutations in CIZ1 cause adult onset primary cervical dystonia
11 auth.
Jianfeng Xiao,
R. Uitti,
Yu Zhao,
Satya R Vemula,
J. Perlmutter,
Z. Wszolek,
...
D. Maraganore,
G. Auburger,
B. Leube,
Katja Lehnhoff,
M. LeDoux
|
7 |
2012 |
7
🐜
|
|
🐜
|
Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients
16 auth.
S. Rudnik-Schöneborn,
D. Tölle,
J. Senderek,
J. Senderek,
K. Eggermann,
M. Elbracht,
Uwe Kornak,
M. V. D. Hagen,
Janbernd Kirschner,
B. Leube,
...
W. Müller-Felber,
Ulrike Schara,
K. V. Au,
Dagmar Wieczorek,
C. Bussmann,
K. Zerres
|
6 |
2016 |
6
🐜
|
|
🐜
|
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome
7 auth.
V. Schumacher,
T. Vogel,
B. Leube,
C. Driemel,
T. Goecke,
G. Möslein,
...
B. Royer-Pokora
|
6 |
2005 |
6
🐜
|
|
🦁
|
Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family
B. Leube,
K. Kessler,
T. Goecke,
G. Auburger,
R. Benecke
|
6 |
1997 |
6
🦁
|
|
🐜
|
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
206 auth.
M. N. Loviglio,
M. Leleu,
K. Männik,
K. Männik,
M. Passeggeri,
G. Giannuzzi,
I. V. D. Werf,
Sebastian M. Waszak,
Sebastian M. Waszak,
Sebastian M. Waszak,
M. Zazhytska,
I. Roberts-Caldeira,
N. Gheldof,
E. Migliavacca,
E. Migliavacca,
...
A. Alfaiz,
A. Alfaiz,
L. Hippolyte,
A. Maillard,
M. N. Loviglio,
K. Männik,
K. Männik,
I. V. D. Werf,
G. Giannuzzi,
M. Zazhytska,
N. Gheldof,
E. Migliavacca,
E. Migliavacca,
A. Alfaiz,
A. Alfaiz,
I. Roberts-Caldeira,
L. Hippolyte,
A. Maillard,
A. Ferrarini,
Florence Niel Butschi,
Florence Niel Butschi,
B. Conrad,
B. Conrad,
M. Addor,
M. Addor,
M. Belfiore,
M. Belfiore,
K. Roetzer,
K. Roetzer,
A. Dijck,
B. Blaumeiser,
R. Kooy,
F. Roelens,
A. Dheedene,
B. D. Chiaie,
B. Menten,
A. Oostra,
J. Caberg,
M. Carter,
B. Kellam,
D. Stavropoulos,
C. Marshall,
S. Scherer,
R. Weksberg,
C. Cytrynbaum,
A. Bassett,
Chelsea Lowther,
J. Gillis,
S. MacKay,
I. Bache,
L. Ousager,
M. Smerdel,
J. Graakjaer,
S. Kjaergaard,
A. Metspalu,
M. Mathieu,
D. Bonneau,
A. Guichet,
P. Parent,
C. Férec,
M. Gérard,
G. Plessis,
J. Lespinasse,
A. Masurel,
N. Marle,
L. Faivre,
P. Callier,
V. Layet,
N. L. Meur,
C. L. Goff,
B. Duban‐Bedu,
S. Sukno,
O. Boute,
J. Andrieux,
P. Blanchet,
D. Geneviève,
J. Puechberty,
A. Schneider,
B. Leheup,
P. Jonveaux,
S. Mercier,
A. David,
C. Caignec,
L. Pontual,
E. Pipiras,
A. Jacquette,
B. Keren,
B. Gilbert-Dussardier,
F. Bilan,
A. Goldenberg,
P. Chambon,
A. Toutain,
M. Till,
D. Sanlaville,
B. Leube,
B. Royer-Pokora,
H. Grabe,
C. Schmidt,
C. Schurmann,
G. Homuth,
G. Thorleifsson,
U. Thorsteinsdóttir,
L. Bernardini,
A. Novelli,
L. Micale,
G. Merla,
M. Zollino,
F. Mari,
C. L. Rizzo,
A. Renieri,
M. Silengo,
A. V. Silfhout,
M. Schouten,
R. Pfundt,
N. Leeuw,
F. Vansenne,
S. Maas,
D. Barge-Schaapveld,
A. C. Knegt,
B. Stadheim,
O. Rødningen,
G. Houge,
S. Price,
L. Hawkes,
Carolyn Campbell,
U. Kini,
J. Vogt,
R. Walters,
A. Blakemore,
J. Gusella,
Yiping Shen,
D. Scott,
C. Bacino,
K. Tsuchiya,
R. Ladda,
S. Sell,
A. Asamoah,
A. Hamati,
J. Rosenfeld,
L. Shaffer,
Elyse B Mitchell,
Jennelle C Hodge,
J. Beckmann,
J. Beckmann,
S. Jacquemont,
A. Reymond,
Lisa J Ewans,
D. Mowat,
Jan Walker,
D. Amor,
H. Esch,
P. Leroy,
J. Bamforth,
Deepti Babu,
B. Isidor,
N. Didonato,
K. Hackmann,
M. Passeggeri,
A. Haeringen,
Rosemarie Smith,
S. Ellingwood,
D. Farber,
V. Puri,
N. Zadeh,
D. Weaver,
Mandy Miller,
T. Wilks,
C. Jorgez,
D. Lafayette,
A. Dijck,
R. Kooy,
D. Sanlaville,
J. Rosenfeld,
L. Shaffer,
J. Andrieux,
C. Marshall,
S. Scherer,
Y. Shen,
J. Gusella,
U. Thorsteinsdóttir,
G. Thorleifsson,
E. Dermitzakis,
E. Dermitzakis,
B. Deplancke,
B. Deplancke,
J. Beckmann,
J. Beckmann,
J. Rougemont,
J. Rougemont,
S. Jacquemont,
A. Reymond
|
6 |
2016 |
6
🐜
|
|
🦁
|
Sporadic focal dystonia in Northwest Germany: Molecular basis on chromosome 18p
B. Leube,
T. Hendgen,
K. Kessler,
M. Knapp,
R. Benecke,
G. Auburger
|
5 |
1997 |
5
🦁
|
