Thomas Müller
Thomas Müller
Professor of Pediatrics
Verified email at i-med.ac.at
Title
Cited by
Cited by
Year
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
T Müller, MW Hess, N Schiefermeier, K Pfaller, HL Ebner, P Heinz-Erian, ...
Nature genetics 40 (10), 1163-1165, 2008
3002008
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, ...
Nature genetics 45 (10), 1216-1220, 2013
2292013
Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder
T Müller, H Feichtinger, H Berger, W Müller
The Lancet 347 (9005), 877-880, 1996
1881996
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
1742011
Loss of syntaxin 3 causes variant microvillus inclusion disease
CL Wiegerinck, AR Janecke, K Schneeberger, GF Vogel, ...
Gastroenterology 147 (1), 65-68. e10, 2014
1272014
Loss‐of‐function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo‐2 RNAi cell model
FM Ruemmele, T Müller, N Schiefermeier, HL Ebner, S Lechner, K Pfaller, ...
Human mutation 31 (5), 544-551, 2010
1172010
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome
M Dündar, T Müller, Q Zhang, J Pan, B Steinmann, J Vodopiutz, R Gruber, ...
The American Journal of Human Genetics 85 (6), 873-882, 2009
1122009
Idiopathic copper toxicosis
T Müller, W Müller, H Feichtinger
The American journal of clinical nutrition 67 (5), 1082S-1086S, 1998
1121998
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
M Zimoń, J Baets, L Almeida-Souza, E De Vriendt, J Nikodinovic, ...
Nature genetics 44 (10), 1080-1083, 2012
1022012
Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson’s disease in children
T Müller, S Koppikar, RM Taylor, F Carragher, B Schlenck, P Heinz-Erian, ...
Journal of hepatology 47 (2), 270-276, 2007
952007
Faecal calprotectin indicates intestinal inflammation in COVID-19
M Effenberger, F Grabherr, L Mayr, J Schwaerzler, M Nairz, M Seifert, ...
Gut 69 (8), 1543-1544, 2020
932020
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations–phenotypic spectrum and frequencies of GJB2 mutations in Austria
AR Janecke, A Hirst-Stadlmann, B Günther, B Utermann, T Müller, ...
Human genetics 111 (2), 145-153, 2002
932002
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
P Heinz-Erian, T Müller, B Krabichler, M Schranz, C Becker, ...
The American Journal of Human Genetics 84 (2), 188-196, 2009
892009
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea
AR Janecke, P Heinz-Erian, J Yin, BS Petersen, A Franke, S Lechner, ...
Human molecular genetics 24 (23), 6614-6623, 2015
792015
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes
T Müller, C Wijmenga, AD Phillips, A Janecke, RHJ Houwen, H Fischer, ...
Gastroenterology 119 (6), 1506-1513, 2000
742000
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
EJR Jansen, S Timal, M Ryan, A Ashikov, M Van Scherpenzeel, ...
Nature communications 7 (1), 1-13, 2016
732016
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form
J Salomon, O Goulet, D Canioni, N Brousse, J Lemale, P Tounian, ...
Human genetics 133 (3), 299-310, 2014
722014
Premature aging of the immune system in children with juvenile idiopathic arthritis
M Prelog, N Schwarzenbrunner, M Sailer‐Höck, H Kern, A Klein‐Franke, ...
Arthritis & Rheumatism: Official Journal of the American College of …, 2008
682008
Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3
GF Vogel, KMC Klee, AR Janecke, T Müller, MW Hess, LA Huber
Journal of Cell Biology 211 (3), 587-604, 2015
662015
The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis
T Müller, B van de Sluis, A Zhernakova, E van Binsbergen, AR Janecke, ...
Journal of hepatology 38 (2), 164-168, 2003
662003
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Articles 1–20