Jan Senderek

Overview

Best Publications

• Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

  Stephan Züchner;Stephan Züchner;Irina V Mersiyanova;Maria Muglia;Nisrine Bissar-Tadmouri;Nisrine Bissar-Tadmouri

  1907
  Citations

• PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

  Luiz F. Onuchic;Laszlo Furu;Yasuyuki Nagasawa;Xiaoying Hou

  641
  Citations

• Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

  Carsten Bergmann;Manfred Fliegauf;Nadina Ortiz Brüchle;Valeska Frank

  379
  Citations

• Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

  Carsten Bergmann;Jan Senderek;Ellen Windelen;Fabian Küpper

  355
  Citations

• Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

  Jan Senderek;Carsten Bergmann;Susanne Weber;Uwe-Peter Ketelsen

  308
  Citations

• Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

  Michaela Auer-Grumbach;Andrea Olschewski;Lea Papić;Hannie Kremer

  300
  Citations

• Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy

  J. Senderek;M. Krieger;C. Stendel;C. Bergmann

  291
  Citations

• Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

  Jijun Wan;Michael Yourshaw;Hafsa Mamsa;Sabine Rudnik-Schöneborn

  264
  Citations

• Mutations in **FAM134B**, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

  Ingo Kurth;Torsten Pamminger;J Christopher Hennings;Désirée Soehendra

  258
  Citations

• Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

  Jan Senderek;Carsten Bergmann;Claudia Stendel;Jutta Kirfel

  250
  Citations

• Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome

  Valeska Frank;Anneke I. den Hollander;Nadina Ortiz Brüchle;Marijke N. Zonneveld

  240
  Citations

• Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)

  Carsten Bergmann;Jan Senderek;Beate Sedlacek;Ioannis Pegiazoglou

  237
  Citations

• Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

  Jan Senderek;Jan Senderek;Juliane S. Müller;Marina Dusl;Tim M. Strom

  194
  Citations

• Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

  Jan Senderek;Jan Senderek;Sean M. Garvey;Sean M. Garvey;Michael Krieger;Velina Guergueltcheva

  193
  Citations

• Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

  Matthis Synofzik;Anne S Soehn;Janina Gburek-Augustat;Julia Schicks

  191
  Citations

• PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

  Carsten Bergmann;Jan Senderek;Fabian Küpper;Frank Schneider

  187
  Citations

• Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

  Jan Senderek;Carsten Bergmann;Vincent T Ramaekers;Eva Nelis

  182
  Citations

• Transcriptional regulator PRDM12 is essential for human pain perception

  Ya Chun Chen;Michaela Auer-Grumbach;Shinya Matsukawa;Manuela Zitzelsberger

  180
  Citations

• Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

  Claudia Stendel;Andreas Roos;Tine Deconinck;Jorge Pereira

  167
  Citations

• Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

  Carsten Bergmann;Klaus Zerres;Jan Senderek;Sabine Rudnik‐Schöneborn

  156
  Citations