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Tim M Strom
Tim M Strom
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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
A Zimprich, S Biskup, P Leitner, P Lichtner, M Farrer, S Lincoln, ...
Neuron 44 (4), 601-607, 2004
34092004
Genomewide association analysis of coronary artery disease
NJ Samani, J Erdmann, AS Hall, C Hengstenberg, M Mangino, B Mayer, ...
New England Journal of Medicine 357 (5), 443-453, 2007
24622007
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
20432013
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
S Rost, A Fregin, V Ivaskevicius, E Conzelmann, K Hörtnagel, HJ Pelz, ...
Nature 427 (6974), 537-541, 2004
14882004
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
KE White, WE Evans, JLH O'Riordan, MC Speer, MJ Econs, ...
Nature genetics 26 (3), 345-348, 2000
13672000
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12412016
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele, T Schwarzmayr, ...
The Lancet 380 (9854), 1674-1682, 2012
12192012
Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment
EB Binder, D Salyakina, P Lichtner, GM Wochnik, M Ising, B Pütz, ...
Nature genetics 36 (12), 1319-1325, 2004
11182004
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
A Zimprich, A Benet-Pagès, W Struhal, E Graf, SH Eck, MN Offman, ...
The American Journal of Human Genetics 89 (1), 168-175, 2011
10602011
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
M Dichgans, T Freilinger, G Eckstein, E Babini, B Lorenz-Depiereux, ...
The Lancet 366 (9483), 371-377, 2005
10442005
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
E Zanaria, F Muscatelli, B Bardoni, TM Strom, S Guioli, W Guo, E Lalli, ...
Nature 372 (6507), 635-641, 1994
10131994
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
F Muscatelli, TM Strom, AP Walker, E Zanaria, D Récan, A Meindl, ...
Nature 372 (6507), 672-676, 1994
8761994
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
F Francis, S Hennig, B Korn, R Reinhardt, P De Jong, A Poustka, ...
Nature genetics 11 (2), 130-136, 1995
8661995
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
A Freischmidt, T Wieland, B Richter, W Ruf, V Schaeffer, K Müller, ...
Nature neuroscience 18 (5), 631-636, 2015
8202015
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
AI den Hollander, RK Koenekoop, S Yzer, I Lopez, ML Arends, ...
The American Journal of Human Genetics 79 (3), 556-561, 2006
7982006
Genome-wide, large-scale production of mutant mice by ENU mutagenesis
MH de Angelis, H Flaswinkel, H Fuchs, B Rathkolb, D Soewarto, ...
Nature genetics 25 (4), 444-447, 2000
7982000
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy
P Navon Elkan, SB Pierce, R Segel, T Walsh, J Barash, S Padeh, ...
New England Journal of Medicine 370 (10), 921-931, 2014
6522014
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
TM Strom, G Nyakatura, E Apfelstedt-Sylla, H Hellebrand, B Lorenz, ...
Nature genetics 19 (3), 260-263, 1998
6061998
Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome
A Zimprich, M Grabowski, F Asmus, M Naumann, D Berg, M Bertram, ...
Nature genetics 29 (1), 66-69, 2001
5822001
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
5792018
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