Zobrazeno 1 - 3
of 3
pro vyhledávání: '"PNPLA6 protein, human"'
Autor:
Christina Gerth-Kahlert, Dominik Straumann, Matthis Synofzik, Peter Bauer, Florian Harmuth, Dagmar Timmann, Alexander A. Tarnutzer, D. I. Chang
Publikováno v:
Journal of neurology 262(1), 194-202 (2014). doi:10.1007/s00415-014-7555-9
The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher-Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc00c27e696e2ed69210c640d757a99
https://www.ncbi.nlm.nih.gov/pubmed/25359264
https://www.ncbi.nlm.nih.gov/pubmed/25359264
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry 86(5), 580-581 (2014). doi:10.1136/jnnp-2014-307793
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a787445c89c2068c45153a3ad28a397d
https://pubmed.ncbi.nlm.nih.gov/24790214
https://pubmed.ncbi.nlm.nih.gov/24790214
Autor:
Tobias B. Haack, Didier Hannequin, Amjad Farooq, Michael A. Gonzalez, Tim M. Strom, Adriana P. Rebelo, Alexandra Durr, Wilson Marques, Christoph Kernstock, Charles Marques Lourenço, Stephan Züchner, Ludger Schöls, Holger Prokisch, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, Marcos M. Lima-Martínez, Marie Coutelier
Publikováno v:
Brain 137(1), 69-77 (2013). doi:10.1093/brain/awt326
Brain 137, 69-77 (2014)
Brain 137, 69-77 (2014)
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc5563b1b758ece4aee6062e1bc1bbd