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Jan Senderek
Jan Senderek
未知所在单位机构
在 med.uni-muenchen.de 的电子邮件经过验证
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引用次数
年份
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
S Züchner, IV Mersiyanova, M Muglia, N Bissar-Tadmouri, J Rochelle, ...
Nature genetics 36 (5), 449-451, 2004
18672004
The Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta …
LF Onuchic, L Furu, Y Nagasawa, X Hou, T Eggermann, Z Ren, ...
The American Journal of Human Genetics 70 (5), 1305-1317, 2002
5802002
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
C Bergmann, M Fliegauf, NO Brüchle, V Frank, H Olbrich, J Kirschner, ...
The American Journal of Human Genetics 82 (4), 959-970, 2008
3902008
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
C Bergmann, J Senderek, E Windelen, F Küpper, I Middeldorf, ...
Kidney International 67 (3), 829-848, 2005
3582005
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15
J Senderek, C Bergmann, S Weber, UP Ketelsen, H Schorle, ...
Human molecular genetics 12 (3), 349-356, 2003
3132003
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ...
Nature genetics 42 (2), 160-164, 2010
3082010
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
J Senderek, M Krieger, C Stendel, C Bergmann, M Moser, ...
Nature genetics 37 (12), 1312-1314, 2005
2922005
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
J Wan, M Yourshaw, H Mamsa, S Rudnik-Schöneborn, MP Menezes, ...
Nature genetics 44 (6), 704-708, 2012
2542012
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
I Kurth, T Pamminger, JC Hennings, D Soehendra, AK Huebner, ...
Nature genetics 41 (11), 1179-1181, 2009
2472009
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
J Senderek, C Bergmann, C Stendel, J Kirfel, N Verpoorten, P De Jonghe, ...
The American Journal of Human Genetics 73 (5), 1106-1119, 2003
2442003
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome
V Frank, AI den Hollander, NO Brüchle, MN Zonneveld, G Nürnberg, ...
Human mutation 29 (1), 45-52, 2008
2372008
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
C Bergmann, J Senderek, B Sedlacek, I Pegiazoglou, P Puglia, ...
Journal of the American Society of Nephrology 14 (1), 76-89, 2003
2372003
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
J Senderek, SM Garvey, M Krieger, V Guergueltcheva, A Urtizberea, ...
The American Journal of Human Genetics 84 (4), 511-518, 2009
2082009
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
C Bergmann, J Senderek, F Küpper, F Schneider, C Dornia, E Windelen, ...
Human mutation 23 (5), 453-463, 2004
1962004
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
1852013
Transcriptional regulator PRDM12 is essential for human pain perception
YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ...
Nature genetics 47 (7), 803-808, 2015
1832015
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ...
The American Journal of Human Genetics 88 (2), 162-172, 2011
1812011
Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth …
J Senderek, C Bergmann, VT Ramaekers, E Nelis, GÈ Bernert, ...
Brain 126 (3), 642-649, 2003
1702003
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
C Stendel, A Roos, T Deconinck, J Pereira, F Castagner, A Niemann, ...
The American Journal of Human Genetics 81 (1), 158-164, 2007
1652007
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
C Bergmann, K Zerres, J Senderek, S Rudnik‐Schöneborn, T Eggermann, ...
Brain 126 (7), 1537-1544, 2003
1582003
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