Jan Senderek
Friedrich Baur Stiftung(DE)Ludwig-Maximilians-Universität München(DE)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Cellular transport and secretion, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A(2004)1,546 cited
- → 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(2002)508 cited
- → Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)(2005)344 cited
- → Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia(2008)330 cited
- → Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C(2009)267 cited
- → Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15(2003)262 cited