Publications by authors named "Helge Boman"

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GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes

PLoS One· August 2017

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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Helge Boman

Am J Hum Genet· February 2017

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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Helge Boman

Am J Hum Genet· February 2017

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Novel variant: altered respiratory and circadian rhythm, anesthetic sensitivity.
Bernarda Lozic, Stefan Johansson, Sanja Lovric Kojundzic, Josko Markic, Per Morten Knappskog, Helge Boman

Ann Clin Transl Neurol· November 2016

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Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
Dario Brunetti, Janniche Torsvik, Cristina Dallabona, Pedro Teixeira, Pawel Sztromwasser, Helge Boman

EMBO Mol Med· March 2016

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High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).
Cecilie Bredrup, Stefan Johansson, Laurence A Bindoff, Pawel Sztromwasser, Jostein Kråkenes, Helge Boman

Am J Ophthalmol· May 2015

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Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.
Mariarosa A B Melone, Michael J Pellegrino, Maria Nolano, Beth A Habecker, Stefan Johansson, Helge Boman

Ann Clin Transl Neurol· November 2014

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STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Ketil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, Jens Bollerslev, Ove Bruland, Helge Boman

Orphanet J Rare Dis· September 2014

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Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog

PLoS One· January 2014

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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.
Beyhan Tüysüz, Ozgür Kasapçopur, Cengiz Yalçınkaya, Zehra Işık Haşıloğlu, Per M Knappskog, Helge Boman

Brain Dev· June 2013

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Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Eyvind Rødahl, Per M Knappskog, Jacek Majewski, Stefan Johansson, Wenche Telstad, Helge Boman

Am J Ophthalmol· May 2013

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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, Bjørn Ivar Haukanes, Cecilie Bredrup, Helge Boman

Orphanet J Rare Dis· January 2013

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Familial diarrhea syndrome caused by an activating GUCY2C mutation.
Torunn Fiskerstrand, Najla Arshad, Bjørn Ivar Haukanes, Rune Rose Tronstad, Khanh Do-Cong Pham, Helge Boman

N Engl J Med· April 2012

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Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Cecilie Bredrup, Sophie Saunier, Machteld M Oud, Torunn Fiskerstrand, Alexander Hoischen, Helge Boman

Am J Hum Genet· November 2011

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A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Anne E Christensen, Torunn Fiskerstrand, Per M Knappskog, Helge Boman, Eyvind Rødahl

Invest Ophthalmol Vis Sci· December 2010

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Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Torunn Fiskerstrand, Dorra H'mida-Ben Brahim, Stefan Johansson, Abderrahim M'zahem, Bjørn Ivar Haukanes, Helge Boman

Am J Hum Genet· September 2010

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Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Masanori Yamazaki, Tomoki Kosho, Shigeo Kawachi, Maiko Mikoshiba, Jun Takahashi, Helge Boman

Am J Med Genet A· March 2010

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

Invest Ophthalmol Vis Sci· January 2010

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Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
Torunn Fiskerstrand, Gunnar Houge, Staale Sund, David Scheie, Sabine Leh, Helge Boman

J Mol Diagn· January 2010

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Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
Aasne K Aarsand, Helge Boman, Sverre Sandberg

Clin Chem· April 2009

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Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria.
Oddmund Søvik, Helge Boman

Acta Paediatr· May 2008

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Clinical manifestation of a novel PAX6 mutation Arg128Pro.
Cecilie Bredrup, Per M Knappskog, Eyvind Rødahl, Helge Boman

Arch Ophthalmol· March 2008

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A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.
Eyvind Rødahl, Rita Van Ginderdeuren, Per M Knappskog, Cecilie Bredrup, Helge Boman

Am J Ophthalmol· September 2006

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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.
François Rousseau, Jean-François Gauchat, James G McLeod, Sylvie Chevalier, Catherine Guillet, Helge Boman

Proc Natl Acad Sci U S A· June 2006

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