Search Results - "Boman, Helge"

Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation by Fiskerstrand, Torunn, Arshad, Najla, Haukanes, Bjørn Ivar, Tronstad, Rune Rose, Pham, Khanh Do-Cong, Johansson, Stefan, Håvik, Bjarte, Tønder, Siv L, Levy, Shawn E, Brackman, Damien, Boman, Helge, Biswas, Kabir Hassan, Apold, Jaran, Hovdenak, Nils, Visweswariah, Sandhya S, Knappskog, Per M

“…Heat-stable enterotoxin induces diarrhea by activating guanylate cyclase (GC-C) on enterocytes, resulting in the secretion of water into the intestinal lumen…”
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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

“…Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing…”
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Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration by Brunetti, Dario, Torsvik, Janniche, Dallabona, Cristina, Teixeira, Pedro, Sztromwasser, Pawel, Fernandez‐Vizarra, Erika, Cerutti, Raffaele, Reyes, Aurelio, Preziuso, Carmela, D'Amati, Giulia, Baruffini, Enrico, Goffrini, Paola, Viscomi, Carlo, Ferrero, Ileana, Boman, Helge, Telstad, Wenche, Johansson, Stefan, Glaser, Elzbieta, Knappskog, Per M, Zeviani, Massimo, Bindoff, Laurence A

“…Mitochondrial dysfunction and altered proteostasis are central features of neurodegenerative diseases. The pitrilysin metallopeptidase 1 (PITRM1) is a…”
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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies by Haugarvoll, Kristoffer, Johansson, Stefan, Rodriguez, Carlos E, Boman, Helge, Haukanes, Bjørn Ivar, Bruland, Ove, Roque, Francisco, Jonassen, Inge, Blomqvist, Maria, Telstad, Wenche, Månsson, Jan-Eric, Knappskog, Per Morten, Bindoff, Laurence A

“…With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used…”
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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing by Haugarvoll, Kristoffer, Johansson, Stefan, Tzoulis, Charalampos, Haukanes, Bjørn Ivar, Bredrup, Cecilie, Neckelmann, Gesche, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A

“…Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the…”
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Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene by Bredrup, Cecilie, Knappskog, Per M, Majewski, Jacek, Rodahl, Eyvind, Boman, Helge

“…To describe the clinical and pathologic characteristics of a family with a congenital stromal dystrophy of the cornea and to identify the genetic basis for…”
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Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay by Tzoulis, Charalampos, Johansson, Stefan, Haukanes, Bjørn Ivar, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A

“…We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound…”
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Inactivation of Cardiotrophin-Like Cytokine, a Second Ligand for Ciliary Neurotrophic Factor Receptor, Leads to Cold-Induced Sweating Syndrome in a Patient by Rousseau, François, Gauchat, Jean-François, McLeod, James G., Chevalier, Sylvie, Guillet, Catherine, Guilhot, Florence, Cognet, Isabelle, Froger, Josy, Hahn, Angelika F., Knappskog, Per M., Gascan, Hugues, Boman, Helge

“…Ciliary neurotrophic factor (CNTF) receptor controls a pathway supporting the differentiation and survival of a wide range of neural cell types during…”
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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 by Tüysüz, Beyhan, Kasapçopur, Özgür, Yalçınkaya, Cengiz, Işık Haşıloğlu, Zehra, Knappskog, Per M, Boman, Helge

“…Abstract Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by excess sweating induced by cold exposure, camptodactyly…”
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Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping by Fiskerstrand, Torunn, Houge, Gunnar, Sund, Staale, Scheie, David, Leh, Sabine, Boman, Helge, Knappskog, Per M

“…We have investigated a family where two siblings had a developmental disorder associated with polycystic dysplastic kidney disease that was incompatible with…”
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Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene by Knappskog, Per M., Majewski, Jacek, Livneh, Avi, Nilsen, Per Torgeir E., Bringsli, Jorunn S., Ott, Jürg, Boman, Helge

“…In 1978, Sohar et al. described a strikingly peculiar syndrome in two Israeli sisters. These young women responded to environmental temperatures of 18°C–7°C…”
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 by Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.

“…A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan…”
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Familial and Sporadic Porphyria Cutanea Tarda: Characterization and Diagnostic Strategies by Aarsand, Aasne K, Boman, Helge, Sandberg, Sverre

“…Porphyria cutanea tarda (PCT) occurs in sporadic (sPCT) and familial (fPCT) forms, which are generally clinically indistinguishable and have traditionally been…”
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Defective PITRM1 mitochondrial peptidase is associated with A amyloidotic neurodegeneration by Brunetti, Dario, Torsvik, Janniche, Dallabona, Cristina, Teixeira, Pedro, Sztromwasser, Pawel, Fernandez-Vizarra, Erika, Cerutti, Raffaele, Reyes, Aurelio, Preziuso, Carmela, D'Amati, Giulia, Baruffini, Enrico, Goffrini, Paola, Viscomi, Carlo, Ferrero, Ileana, Boman, Helge, Telstad, Wenche, Johansson, Stefan, Glaser, Elzbieta, Knappskog, Per M., Zeviani, Massimo, Bindoff, Laurence A.

“…Mitochondrial dysfunction and altered proteostasis are central features of neurodegenerative diseases. The pitrilysin metallopeptidase 1 (PITRM1) is a…”
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A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae by Christensen, Anne E, Fiskerstrand, Torunn, Knappskog, Per M, Boman, Helge, Rødahl, Eyvind

“…To examine the ocular malformations and identify the molecular genetic basis for autosomal recessive ectopia lentis et pupillae in five Norwegian families. Ten…”
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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis by Macia, Maxence S., Halbritter, Jan, Delous, Marion, Bredrup, Cecilie, Gutter, Arthur, Filhol, Emilie, Mellgren, Anne E.C., Leh, Sabine, Bizet, Albane, Braun, Daniela A., Gee, Heon Y., Silbermann, Flora, Henry, Charline, Krug, Pauline, Bole-Feysot, Christine, Nitschké, Patrick, Joly, Dominique, Nicoud, Philippe, Paget, André, Haugland, Heidi, Brackmann, Damien, Ahmet, Nayir, Sandford, Richard, Cengiz, Nurcan, Knappskog, Per M., Boman, Helge, Linghu, Bolan, Yang, Fan, Oakeley, Edward J., Saint Mézard, Pierre, Sailer, Andreas W., Johansson, Stefan, Rødahl, Eyvind, Saunier, Sophie, Hildebrandt, Friedhelm, Benmerah, Alexandre

“…Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three…”
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STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity by Heimdal, Ketil, Sanchez-Guixé, Monica, Aukrust, Ingvild, Bollerslev, Jens, Bruland, Ove, Jablonski, Greg Eigner, Erichsen, Anne Kjersti, Gude, Einar, Koht, Jeanette A, Erdal, Sigrid, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Boman, Helge, Bjørkhaug, Lise, Tallaksen, Chantal M E, Knappskog, Per M, Johansson, Stefan

“…A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences…”
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Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation by Rødahl, Eyvind, Knappskog, Per M, Majewski, Jacek, Johansson, Stefan, Telstad, Wenche, Kråkenes, Jostein, Boman, Helge

“…Purpose To investigate the diverse ocular manifestations and identify the causative mutation in a large family with autosomal dominant anterior segment…”
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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis by Macia, Maxence S., Halbritter, Jan, Delous, Marion, Bredrup, Cecilie, Gutter, Arthur, Filhol, Emilie, Mellgren, Anne E.C., Leh, Sabine, Bizet, Albane, Braun, Daniela A., Gee, Heon Y., Silbermann, Flora, Henry, Charline, Krug, Pauline, Bole-Feysot, Christine, Nitschké, Patrick, Joly, Dominique, Nicoud, Philippe, Paget, André, Haugland, Heidi, Brackmann, Damien, Ahmet, Nayir, Sandford, Richard, Cengiz, Nurcan, Knappskog, Per M., Boman, Helge, Linghu, Bolan, Yang, Fan, Oakeley, Edward J., Saint Mézard, Pierre, Sailer, Andreas W., Johansson, Stefan, Rødahl, Eyvind, Saunier, Sophie, Hildebrandt, Friedhelm, Benmerah, Alexandre

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Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene by Christensen, Anne E, Knappskog, Per M, Midtbø, Marit, Gjesdal, Clara G, Mengel-From, Jonas, Morling, Niels, Rødahl, Eyvind, Boman, Helge

“…To investigate the diverse clinical manifestations, identify the causative mutation and explain the association with red hair in a family with brittle cornea…”
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