Jan Senderek

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

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.5K citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mitochondrial Function +9

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 et al. · The American Journal of Human Genetics · 2002 · 506 citations · Full text

Signaling Pathway, Autoimmune Disease, Disease Mechanism +13

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

Carsten Bergmann, Jan Senderek, Ellen Windelen et al. · Kidney International · 2005 · 341 citations · Full text

Pkhd1 Mutations, Urology, Renal Disease +11

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 et al. · The American Journal of Human Genetics · 2008 · 328 citations · Full text

Meckel-gruber-like Syndrome, Developmental Biology, Renal-hepatic-pancreatic Dysplasia +7

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

Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić et al. · Nature Genetics · 2009 · 267 citations · Full text

Ankyrin Domain, Scapuloperoneal Sma, Molecular Biology +4