|
🐜
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A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
51 auth.
M. Arcos-Burgos,
M. Jain,
M. Acosta,
S. Shively,
H. Stanescu,
D. Wallis,
S. Domené,
J. I. Velez,
J. D. Karkera,
J. Balog,
K. Berg,
R. Kleta,
W. Gahl,
E. Roessler,
R. Long,
...
J. Lie,
David Pineda,
A. Londoño,
J. Palacio,
A. Arbeláez,
F. Lopera,
J. Elia,
H. Hakonarson,
S. Johansson,
P. Knappskog,
J. Haavik,
M. Ribasés,
B. Cormand,
M. Bayés,
M. Casas,
J. Ramos-Quiroga,
A. Hervás,
B. Maher,
S. Faraone,
C. Seitz,
C. Freitag,
H. Pálmason,
Jobst Meyer,
M. Romanos,
S. Walitza,
U. Hemminger,
A. Warnke,
J. Romanos,
T. Renner,
C. Jacob,
K. Lesch,
J. Swanson,
A. Vortmeyer,
J. Bailey-Wilson,
F. Castellanos,
M. Muenke
|
8 |
2010 |
8
🐜
|
|
🐜
|
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
28 auth.
C. Bredrup,
S. Saunier,
M. Oud,
T. Fiskerstrand,
A. Hoischen,
D. Brackman,
S. Leh,
Marit Midtbø,
E. Filhol,
C. Bôle-Feysot,
P. Nitschké,
C. Gilissen,
O. Haugen,
J. Sanders,
I. Stolte-Dijkstra,
...
D. Mans,
E. Steenbergen,
B. Hamel,
M. Matignon,
R. Pfundt,
C. Jeanpierre,
H. Boman,
E. Rødahl,
J. Veltman,
P. Knappskog,
N. Knoers,
R. Roepman,
H. Arts
|
7 |
2011 |
7
🐜
|
|
🐜
|
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
33 auth.
B. Oftedal,
Alexander Hellesen,
Alexander Hellesen,
Martina M Erichsen,
E. Bratland,
Ayelet Vardi,
J. Perheentupa,
E. Kemp,
Torunn Fiskerstrand,
Torunn Fiskerstrand,
M. K. Viken,
A. Weetman,
S. Fleishman,
Siddharth Banka,
Siddharth Banka,
...
William G. Newman,
William G. Newman,
W.A.C. Sewell,
L. Sozaeva,
T. Zayats,
K. Haugarvoll,
E. Orlova,
J. Haavik,
Stefan Johansson,
Stefan Johansson,
P. Knappskog,
P. Knappskog,
K. Løvås,
K. Løvås,
A. Wolff,
J. Abramson,
E. Husebye,
E. Husebye
|
7 |
2015 |
7
🐜
|
|
🐜
|
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
33 auth.
B. Oftedal,
Alexander Hellesen,
Alexander Hellesen,
Martina M Erichsen,
E. Bratland,
Ayelet Vardi,
J. Perheentupa,
E. Kemp,
Torunn Fiskerstrand,
Torunn Fiskerstrand,
M. K. Viken,
A. Weetman,
S. Fleishman,
Siddharth Banka,
Siddharth Banka,
...
William G. Newman,
William G. Newman,
W.A.C. Sewell,
L. Sozaeva,
T. Zayats,
K. Haugarvoll,
E. Orlova,
J. Haavik,
Stefan Johansson,
Stefan Johansson,
P. Knappskog,
P. Knappskog,
K. Løvås,
K. Løvås,
A. Wolff,
J. Abramson,
E. Husebye,
E. Husebye
|
7 |
2015 |
7
🐜
|
|
🐢
|
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
19 auth.
T. Fiskerstrand,
D. H'mida-Ben Brahim,
S. Johansson,
A. M'zahem,
B. Haukanes,
N. Drouot,
J. Zimmermann,
A. Cole,
C. Vedeler,
C. Bredrup,
...
M. Assoum,
M. Tazir,
T. Klockgether,
A. Hamri,
V. Steen,
H. Boman,
L. Bindoff,
M. Koenig,
P. Knappskog
|
7 |
2010 |
7
🐢
|
|
🐜
|
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.
10 auth.
A. Wolff,
Martina M Erichsen,
A. Meager,
N. F. Magitta,
A. Myhre,
J. Bollerslev,
...
K. Fougner,
K. Lima,
P. Knappskog,
E. Husebye
|
7 |
2007 |
7
🐜
|
|
🦁
|
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
P. Knappskog,
T. Flatmark,
J. Mallet,
B. Lüdecke,
K. Bartholomé
|
7 |
1995 |
7
🦁
|
|
🐜
|
Multicenter Analysis of the SLC6A3/DAT1 VNTR Haplotype in Persistent ADHD Suggests Differential Involvement of the Gene in Childhood and Persistent ADHD
39 auth.
B. Franke,
A. Vasquez,
S. Johansson,
S. Johansson,
M. Hoogman,
J. Romanos,
A. Boreatti‐Hümmer,
M. Heine,
C. Jacob,
K. Lesch,
M. Casas,
M. Ribasés,
R. Bosch,
C. Sánchez-Mora,
N. Gómez-Barros,
...
N. Fernàndez-Castillo,
M. Bayés,
A. Halmøy,
H. Halleland,
E. T. Landaas,
E. T. Landaas,
O. B. Fasmer,
O. B. Fasmer,
P. Knappskog,
P. Knappskog,
Angelien Heister,
L. Kiemeney,
J. Kooij,
A. Boonstra,
C. Kan,
P. Asherson,
S. Faraone,
J. K. Buitelaar,
J. Haavik,
J. Haavik,
B. Cormand,
B. Cormand,
J. Ramos-Quiroga,
A. Reif
|
7 |
2010 |
7
🐜
|
|
🐜
|
Multicenter Analysis of the SLC6A3/DAT1 VNTR Haplotype in Persistent ADHD Suggests Differential Involvement of the Gene in Childhood and Persistent ADHD
39 auth.
B. Franke,
A. Vasquez,
S. Johansson,
S. Johansson,
M. Hoogman,
J. Romanos,
A. Boreatti‐Hümmer,
M. Heine,
C. Jacob,
K. Lesch,
M. Casas,
M. Ribasés,
R. Bosch,
C. Sánchez-Mora,
N. Gómez-Barros,
...
N. Fernàndez-Castillo,
M. Bayés,
A. Halmøy,
H. Halleland,
E. T. Landaas,
E. T. Landaas,
O. B. Fasmer,
O. B. Fasmer,
P. Knappskog,
P. Knappskog,
Angelien Heister,
L. Kiemeney,
J. Kooij,
A. Boonstra,
C. Kan,
P. Asherson,
S. Faraone,
J. K. Buitelaar,
J. Haavik,
J. Haavik,
B. Cormand,
B. Cormand,
J. Ramos-Quiroga,
A. Reif
|
7 |
2010 |
7
🐜
|
|
🐜
|
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
9 auth.
B. Lüdecke,
P. Knappskog,
Peter E. Clayton,
R. Surtees,
J. Clelland,
S. Heales,
...
M. Brand,
K. Bartholomé,
T. Flatmark
|
7 |
1996 |
7
🐜
|
|
🐜
|
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes
21 auth.
N. F. Magitta,
N. F. Magitta,
N. F. Magitta,
A. Wolff,
A. Wolff,
S. Johansson,
S. Johansson,
Beate Skinningsrud,
B. Lie,
K. Myhr,
...
K. Myhr,
D. Undlien,
G. Joner,
P. Njølstad,
P. Njølstad,
T. Kvien,
Ø. Førre,
P. Knappskog,
P. Knappskog,
E. Husebye,
E. Husebye
|
7 |
2009 |
7
🐜
|
