دنبال کردن
Tobias B Haack
Tobias B Haack
Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Germany
ایمیل تأیید شده در med.uni-tuebingen.de
عنوان
نقل شده توسط
نقل شده توسط
سال
Genetic diagnosis of Mendelian disorders via RNA sequencing‏
LS Kremer, DM Bader, C Mertes, R Kopajtich, G Pichler, A Iuso, TB Haack, ...‏
Nature communications 8 (1), 15824, 2017‏
5782017
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA‏
TB Haack, P Hogarth, MC Kruer, A Gregory, T Wieland, T Schwarzmayr, ...‏
The American journal of human genetics 91 (6), 1144-1149, 2012‏
3782012
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency‏
TB Haack, K Danhauser, B Haberberger, J Hoser, V Strecker, D Boehm, ...‏
Nature genetics 42 (12), 1131-1134, 2010‏
3212010
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation‏
MB Hartig, A Iuso, T Haack, T Kmiec, E Jurkiewicz, K Heim, S Roeber, ...‏
The American Journal of Human Genetics 89 (4), 543-550, 2011‏
2892011
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease‏
C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ...‏
Nature genetics 45 (2), 214-219, 2013‏
2712013
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation‏
SJ Hayflick, MC Kruer, A Gregory, TB Haack, MA Kurian, HH Houlden, ...‏
Brain 136 (6), 1708-1717, 2013‏
2552013
Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations‏
ME Steenweg, D Ghezzi, T Haack, TEM Abbink, D Martinelli, ...‏
Brain 135 (5), 1387-1394, 2012‏
2552012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome‏
JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ...‏
The American Journal of Human Genetics 90 (2), 314-320, 2012‏
2392012
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum‏
M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ...‏
Brain 137 (1), 69-77, 2014‏
2382014
Novel (ovario) leukodystrophy related to AARS2 mutations‏
C Dallabona, D Diodato, SH Kevelam, TB Haack, LJ Wong, GS Salomons, ...‏
Neurology 82 (23), 2063-2071, 2014‏
2342014
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing‏
TB Haack, B Haberberger, EM Frisch, T Wieland, A Iuso, M Gorza, ...‏
Journal of medical genetics 49 (4), 277-283, 2012‏
2282012
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation‏
S Dusi, L Valletta, TB Haack, Y Tsuchiya, P Venco, S Pasqualato, ...‏
The American Journal of Human Genetics 94 (1), 11-22, 2014‏
2202014
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis‏
D Ghezzi, E Baruffini, TB Haack, F Invernizzi, L Melchionda, C Dallabona, ...‏
The American Journal of Human Genetics 90 (6), 1079-1087, 2012‏
2172012
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum‏
M Synofzik, AS Soehn, J Gburek-Augustat, J Schicks, KN Karle, R Schüle, ...‏
Orphanet journal of rare diseases 8 (1), 41, 2013‏
2012013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy‏
X Gai, D Ghezzi, MA Johnson, CA Biagosch, HE Shamseldin, TB Haack, ...‏
The American Journal of Human Genetics 93 (3), 482-495, 2013‏
1782013
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy‏
TB Haack, R Kopajtich, P Freisinger, T Wieland, J Rorbach, TJ Nicholls, ...‏
The American Journal of Human Genetics 93 (2), 211-223, 2013‏
1732013
Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability‏
Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ...‏
The American Journal of Human Genetics 100 (2), 257-266, 2017‏
1712017
Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia‏
M Zech, S Boesch, EM Maier, I Borggraefe, K Vill, F Laccone, V Pilshofer, ...‏
The American Journal of Human Genetics 99 (6), 1377-1387, 2016‏
1682016
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy‏
R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ...‏
The American Journal of Human Genetics 95 (6), 708-720, 2014‏
1552014
Spectrum of combined respiratory chain defects‏
JA Mayr, TB Haack, P Freisinger, D Karall, C Makowski, J Koch, ...‏
Journal of Inherited Metabolic Disease 38, 629-640, 2015‏
1512015
سیستم در حال حاضر قادر به انجام عملکرد نیست. بعداً دوباره امتحان کنید.
مقاله‌ها 1–20