Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Helge Boman"'
Autor:
Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169309 (2017)
With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar
Externí odkaz:
https://doaj.org/article/3540ac85428d464080612b7de6c19184
Autor:
Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A Bindoff
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e66145 (2013)
We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS
Externí odkaz:
https://doaj.org/article/f140a043b13343ffab0860b05d3fe752
Autor:
André Paget, Philippe Nicoud, Charline Henry, Emilie Filhol, Sabine Leh, Fan Yang, Flora Silbermann, Jan Halbritter, Alexandre Benmerah, Arthur Gutter, Friedhelm Hildebrandt, Per M. Knappskog, Anne E.C. Mellgren, Heon Yung Gee, Richard Sandford, Cecilie Bredrup, Dominique Joly, Pauline Krug, Helge Boman, Sophie Saunier, Christine Bole-Feysot, Nurcan Cengiz, Heidi Haugland, Maxence S. Macia, Marion Delous, Damien Brackmann, Nayir Ahmet, Eyvind Rødahl, Andreas W. Sailer, Edward J. Oakeley, Bolan Linghu, Daniela A. Braun, Stefan Johansson, Albane A. Bizet, Patrick Nitschke, Pierre Saint Mézard
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2017, 100 (2), pp.323-333. ⟨10.1016/j.ajhg.2016.12.011⟩
American Journal of Human Genetics, 2017, 100 (2), pp.323-333. ⟨10.1016/j.ajhg.2016.12.011⟩
International audience; Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::279cce514d4b45826aaf1f82c19587ea
https://europepmc.org/articles/PMC5802996/
https://europepmc.org/articles/PMC5802996/
Autor:
Maria Nolano, Neil M. Nathanson, Helge Boman, Beth A. Habecker, Angelika F Hahn, Stefan Johansson, Mariarosa A. B. Melone, Per M. Knappskog, Michael J. Pellegrino
Publikováno v:
Annals of Clinical and Translational Neurology
A woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (LIFR) (c.2170C>G; p.Pro724Ala) which disrupts LIFR downstream signaling and results in Stüve-Wiedemann syndrome (STWS). She inherited two identical chromosom
Autor:
Helge Boman, Cengiz Yalcinkaya, Ozgur Kasapcopur, Zehra Isik Hasiloglu, Per M. Knappskog, Beyhan Tüysüz
Publikováno v:
Brain and Development. 35:596-601
Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by excess sweating induced by cold exposure, camptodactyly and kyphoscoliosis. CISS is genetically heterogeneous. Deficiency of the CRLF1 or the CLCF1 gene fun
Autor:
Bernarda, Lozic, Stefan, Johansson, Sanja, Lovric Kojundzic, Josko, Markic, Per Morten, Knappskog, Angelika F, Hahn, Helge, Boman
Publikováno v:
Annals of Clinical and Translational Neurology
The sodium leak channel, a Na+‐permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na+‐leak conductance and regulating neuronal excitability. A 3‐year‐old girl, heterozygous for a de novo mi
Autor:
Angelika F Hahn, Helge Boman, Joško Markić, Sanja Lovric Kojundzic, Per M. Knappskog, Bernarda Lozić, Stefan Johansson
The sodium leak channel, a Na+-permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na+- leak conductance and regulating neuronal excitability. A 3-year-old girl, heterozygous for a de novo missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e334e3cff90e83a8bf12b1bf0c310d
https://www.bib.irb.hr/921903
https://www.bib.irb.hr/921903
Autor:
Torunn Fiskerstrand, Helge Boman, Jaran Apold, Khanh Pham, Siv L Tonder, Najla Arshad, Stefan Johansson, Rune Rose Tronstad, Sandhya S. Visweswariah, Nils Hovdenak, Bjørn Ivar Haukanes, Bjarte Håvik, Damien Brackman, Kabir H. Biswas, Shawn Levy, Per M. Knappskog
Publikováno v:
New England Journal of Medicine. 366:1586-1595
BACKGROUND Familial diarrhea disorders are, in most cases, severe and caused by recessive mutations. We describe the cause of a novel dominant disease in 32 members of a Norwegian family. The affected members have chronic diarrhea that is of early on
Autor:
Dario Brunetti, Helge Boman, Aurelio Reyes, Cristina Dallabona, Raffaele Cerutti, Per M. Knappskog, Pedro Teixeira, Carmela Preziuso, Giulia d'Amati, Carlo Viscomi, Stefan Johansson, Enrico Baruffini, Massimo Zeviani, Janniche Torsvik, Ileana Ferrero, Paweł Sztromwasser, Elzbieta Glaser, Laurence A. Bindoff, Wenche Telstad, Paola Goffrini, Erika Fernandez-Vizarra
Publikováno v:
EMBO Molecular Medicine
Mitochondrial dysfunction and altered proteostasis are central features of neurodegenerative diseases. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targeting seq
Autor:
Heleen H. Arts, Nine V A M Knoers, Machteld M. Oud, Jan-Stephan F. Sanders, Marit Midtbø, Sabine Leh, Marie Matignon, Cécile Jeanpierre, Per M. Knappskog, Dorus A. Mans, Ronald Roepman, Ben C.J. Hamel, Irene Stolte-Dijkstra, Eric J. Steenbergen, Eyvind Rødahl, Cecilie Bredrup, Christian Gilissen, Damien Brackman, Emilie Filhol, Olav H. Haugen, Helge Boman, Rolph Pfundt, Torunn Fiskerstrand, Christine Bole-Feysot, Patrick Nitschké, Joris A. Veltman, Sophie Saunier, Alexander Hoischen
Publikováno v:
American Journal of Human Genetics, 89, 5, pp. 634-43
American Journal of Human Genetics, 89, 634-43
The American Journal of Human Genetics; Vol 89
American Journal of Human Genetics, 89(5), 634-643. CELL PRESS
American Journal of Human Genetics, 89, 634-43
The American Journal of Human Genetics; Vol 89
American Journal of Human Genetics, 89(5), 634-643. CELL PRESS
Item does not contain fulltext A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigment