Výsledky vyhledávání - "Helge, Boman"

Akademický článek

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.

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

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Akademický článek

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

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

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Akademický článek

HELGE BOMAN. (Danish)

Autor: HOUGE, GUNNAR

Publikováno v: Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening; 6/1/2019, Vol. 139 Issue 11, p1093-1093, 1p

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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

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⟩

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/

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Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22f8b21975595694f516f570545fbb8c
https://doi.org/10.1002/acn3.126

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Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b9fcd15b7cc6e9b869a90f7f45cc04e
https://doi.org/10.1016/j.braindev.2012.08.011

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Novel

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2aeaaa8d83e99d28bafd2445681be09e
https://pubmed.ncbi.nlm.nih.gov/27844033

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