Publications by authors named "Laurence A Bindoff"

95Publications

Mental health and health related quality of life in mitochondrial POLG disease.

Mitochondrion 2020 Sep 23;55:95-99. Epub 2020 Sep 23.

Department of Clinical Medicine (K1), University of Bergen, Norway; Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.

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http://dx.doi.org/10.1016/j.mito.2020.09.005DOI Listing
September 2020

Using urine to diagnose large-scale mtDNA deletions in adult patients.

Ann Clin Transl Neurol 2020 Jul 7. Epub 2020 Jul 7.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/acn3.51119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448145PMC
July 2020

A hospital based epidemiological study of genetically determined muscle disease in south western Norway.

Neuromuscul Disord 2020 03 4;30(3):181-185. Epub 2020 Feb 4.

Department of Clinical Medicine, University of Bergen, Norway; Department of Neurology, Haukeland University Hospital, Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.01.006DOI Listing
March 2020

No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease.

Epilepsy Behav Rep 2019 25;12:100339. Epub 2019 Oct 25.

Department of Biological and Medical Psychology, University of Bergen, Jonas Lies vei 21, 5009 Bergen, Norway.

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http://dx.doi.org/10.1016/j.ebr.2019.100339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849077PMC
October 2019

Mitochondrial complex IV is lost in neurons in the cuprizone mouse model.

Mitochondrion 2020 01 31;50:58-62. Epub 2019 Oct 31.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1016/j.mito.2019.09.003DOI Listing
January 2020

Fever-related ataxia: a case report of CAPOS syndrome.

Cerebellum Ataxias 2019 8;6. Epub 2019 Feb 8.

8Department of Neurology, Drammen Hospital, Vestre Viken Health Trust, Drammen, Norway.

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https://cerebellumandataxias.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s40673-019-0096-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368810PMC
February 2019

Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fibroblasts.

Cell Mol Life Sci 2020 Mar 3;77(6):1115-1133. Epub 2019 Jul 3.

The Mitochondrial Medicine and Neurogenetics (MMN) Group, Department of Clinical Medicine, University of Bergen, PO Box 7804, 5020, Bergen, Norway.

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http://dx.doi.org/10.1007/s00018-019-03209-yDOI Listing
March 2020

Mitochondrial DNA depletion in sporadic inclusion body myositis.

Neuromuscul Disord 2019 03 10;29(3):242-246. Epub 2019 Feb 10.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine (K1), University of Bergen, Pb 7804, 5020, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.02.001DOI Listing
March 2019

Økt behov for fysioterapeuter med nevromuskulær kompetanse.

Tidsskr Nor Laegeforen 2018 09 17;138(14). Epub 2018 Sep 17.

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http://dx.doi.org/10.4045/tidsskr.18.0580DOI Listing
September 2018

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

Brain Pathol 2019 01 9;29(1):97-113. Epub 2018 Oct 9.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1111/bpa.12640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379503PMC
January 2019

Mitochondrial ataxias.

Handb Clin Neurol 2018 ;155:129-141

Department of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-64189-2.00009-3DOI Listing
October 2018

3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis.

Sci Rep 2018 01 19;8(1):1272. Epub 2018 Jan 19.

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1038/s41598-018-19745-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775208PMC
January 2018

Neurofilament light chain predicts disease activity in relapsing-remitting MS.

Neurol Neuroimmunol Neuroinflamm 2018 Jan 28;5(1):e422. Epub 2017 Nov 28.

Department of Neurology (K.N.V., K.B., K.-M.M., Ø.T., S.W., L.A.B., C.V.), Haukeland University Hospital; Department of Clinical Medicine (K.N.V., K.-M.M., Ø.T., S.W., L.A.B., C.V.), University of Bergen, Norway; Neurologic Clinic and Policlinic (C.B., J.K.), Departments of Medicine, Clinical Research and Biomedicine, University Hospital Basel, University of Basel, Switzerland; Department of Global Public Health and Primary Care (K.B.), University of Bergen, Norway; and Norwegian MS-Registry & Biobank (K.-M.M.).

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http://dx.doi.org/10.1212/NXI.0000000000000422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707445PMC
January 2018

The presence of anaemia negatively influences survival in patients with POLG disease.

J Inherit Metab Dis 2017 11 1;40(6):861-866. Epub 2017 Sep 1.

Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1007/s10545-017-0084-9DOI Listing
November 2017

Understanding the Epilepsy in POLG Related Disease.

Int J Mol Sci 2017 Aug 24;18(9). Epub 2017 Aug 24.

Department of Clinical Medicine (K1), University of Bergen, 5020 Bergen, Norway.

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http://dx.doi.org/10.3390/ijms18091845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618494PMC
August 2017

[Multiple sclerosis - a mitochondria-mediated disease?]

Tidsskr Nor Laegeforen 2017 Feb 21;137(4):284-287. Epub 2017 Feb 21.

Klinisk institutt 1 Universitetet i Bergen og Nevrologisk avdeling Haukeland universitetssykehus.

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http://dx.doi.org/10.4045/tidsskr.16.0210DOI Listing
February 2017

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis.

Mitochondrion 2017 05 23;34:32-35. Epub 2016 Dec 23.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.12.003DOI Listing
May 2017

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy.

Mitochondrion 2017 Jan 10;32:10-15. Epub 2016 Nov 10.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.11.004DOI Listing
January 2017

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.

Mitochondrion 2016 05 12;28:33-7. Epub 2016 Mar 12.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Norway.

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http://dx.doi.org/10.1016/j.mito.2016.03.003DOI Listing
May 2016

Nigrostriatal denervation sine parkinsonism.

Brain 2016 Apr 25;139(Pt 4):e25. Epub 2016 Jan 25.

1 Department of Neurology, Haukeland University Hospital, Bergen, Norway 2 Department of Clinical Medicine, University of Bergen, Norway

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http://dx.doi.org/10.1093/brain/awv410DOI Listing
April 2016

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

Brain 2015 Oct 14;138(Pt 10):2948-63. Epub 2015 Aug 14.

1 Division of Metabolism, Department of Paediatrics, University of Zürich, Zürich, Switzerland 2 Affiliated with the Neuroscience Centre Zurich ZNZ, Zürich, Switzerland 3 Affiliated with the Children's Research Centre CRC, Zürich, Switzerland

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http://dx.doi.org/10.1093/brain/awv224DOI Listing
October 2015

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.

Proc Natl Acad Sci U S A 2015 May 30;112(18):E2268. Epub 2015 Mar 30.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway; K. G. Jebsen Centre for Neuropsychiatric Disorders,

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http://dx.doi.org/10.1073/pnas.1503105112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426452PMC
May 2015

High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).

Am J Ophthalmol 2015 May 26;159(5):973-9.e2. Epub 2015 Jan 26.

Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2015.01.021DOI Listing
May 2015

Molecular pathogenesis of polymerase γ-related neurodegeneration.

Ann Neurol 2014 Jul 14;76(1):66-81. Epub 2014 Jun 14.

Department of Neurology, Haukeland University Hospital, Bergen, Norway; Department of Clinical Medicine, University of Bergen, Bergen, Norway.

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http://www.biomedsearch.com/attachments/00/24/84/11/24841123
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http://doi.wiley.com/10.1002/ana.24185
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http://dx.doi.org/10.1002/ana.24185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140551PMC
July 2014

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

J Neurol 2014 Feb 3;261(2):358-62. Epub 2013 Dec 3.

Department of Neurology, Haukeland University Hospital, Jonas Liesvei 65, 5021, Bergen, Norway,

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http://dx.doi.org/10.1007/s00415-013-7203-9DOI Listing
February 2014

New treatments for mitochondrial disease-no time to drop our standards.

Nat Rev Neurol 2013 Aug 2;9(8):474-81. Epub 2013 Jul 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/nrneurol.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967498PMC
August 2013

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

PLoS One 2013 13;8(6):e66145. Epub 2013 Jun 13.

Department of Neurology, Haukeland University Hospital, Bergen, Norway ; Department of Clinical Medicine, University of Bergen, Bergen, Norway.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0066145PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681964PMC
January 2014

MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations.

Hum Mutat 2013 Feb 4;34(2):292-5. Epub 2013 Jan 4.

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://doi.wiley.com/10.1002/humu.22238
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http://dx.doi.org/10.1002/humu.22238DOI Listing
February 2013

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.

Brain 2012 Dec 12;135(Pt 12):3627-34. Epub 2012 Oct 12.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/aws223DOI Listing
December 2012

Mitochondrial diseases and epilepsy.

Epilepsia 2012 Sep;53 Suppl 4:92-7

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://doi.wiley.com/10.1111/j.1528-1167.2012.03618.x
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http://dx.doi.org/10.1111/j.1528-1167.2012.03618.xDOI Listing
September 2012

Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis.

Gene 2012 Feb 1;494(2):231-6. Epub 2011 Dec 1.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.

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http://dx.doi.org/10.1016/j.gene.2011.11.021DOI Listing
February 2012

Focal myositis--neurogenic phenomenon?

Neuromuscul Disord 2012 Apr 9;22(4):350-4. Epub 2011 Dec 9.

Department of Neurology, Haukeland University Hospital, N-5021 Bergen, Norway.

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http://dx.doi.org/10.1016/j.nmd.2011.10.023DOI Listing
April 2012

Mitochondrial function and pathology in status epilepticus.

Epilepsia 2011 Oct;52 Suppl 8:6-7

Institute of Clinical Medicine, University of Bergen and Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://doi.wiley.com/10.1111/j.1528-1167.2011.03223.x
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http://dx.doi.org/10.1111/j.1528-1167.2011.03223.xDOI Listing
October 2011

Ataxia in mitochondrial disorders.

Handb Clin Neurol 2012 ;103:359-72

Istituto Nazionale Neurologico "C. Besta" - IRCCS, Milano, Italy.

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http://dx.doi.org/10.1016/B978-0-444-51892-7.00022-XDOI Listing
December 2011

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.

J Neurol 2012 Feb 27;259(2):292-6. Epub 2011 Jul 27.

Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.

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http://dx.doi.org/10.1007/s00415-011-6176-9DOI Listing
February 2012

[When the most common isn't the explanation].

Tidsskr Nor Laegeforen 2011 Mar;131(6):586

Institutt for klinisk medisin, Universitet i Bergen, Norway.

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http://dx.doi.org/10.4045/tidsskr.11.0015DOI Listing
March 2011

A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.

J Parkinsons Dis 2011 ;1(1):119-22

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.3233/JPD-2011-11006DOI Listing
June 2014

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.

Neuromuscul Disord 2011 Jan 18;21(1):41-6. Epub 2010 Oct 18.

Department of Habilitation, University Hospital of North Norway, Tromsø, Norway.

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http://dx.doi.org/10.1016/j.nmd.2010.08.008DOI Listing
January 2011

Rhabdomyolysis after group C streptococcal infection.

Infect Dis Rep 2010 Aug 1;2(2):e15. Epub 2010 Oct 1.

Institute of Clinical Medicine, University of Bergen, Norway; ; Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.4081/idr.2010.e15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892581PMC
August 2010

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.

Brain 2010 May 16;133(Pt 5):1428-37. Epub 2010 Apr 16.

Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.

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http://dx.doi.org/10.1093/brain/awq067DOI Listing
May 2010

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Biochim Biophys Acta 2010 Jun 4;1802(6):539-44. Epub 2010 Mar 4.

Department of Clinical Medicine, University of Bergen, Norway.

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http://dx.doi.org/10.1016/j.bbadis.2010.02.010DOI Listing
June 2010

Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.

Stroke 2009 Feb 18;40(2):e15-7. Epub 2008 Dec 18.

Department of Neurology, Haukeland University Hospital, Bergen, Norway.

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https://www.ahajournals.org/doi/10.1161/STROKEAHA.108.523118
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http://dx.doi.org/10.1161/STROKEAHA.108.523118DOI Listing
February 2009

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

J Neurol 2008 Aug 23;255(8):1142-4. Epub 2008 Jun 23.

Dept. of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.

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http://dx.doi.org/10.1007/s00415-008-0858-yDOI Listing
August 2008

A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance.

Neuromuscul Disord 2008 Apr;18(4):310-4

Department of Clinical Medicine, University of Bergen, Heukeland University Hospital, 5021 Bergen, Norway.

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http://dx.doi.org/10.1016/j.nmd.2008.01.003DOI Listing
April 2008

Melas associated with mutations in the polg1 gene.

Neurology 2008 Mar;70(13):1054; author reply 1054-5

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http://dx.doi.org/10.1212/01.wnl.0000307661.98694.c3DOI Listing
March 2008

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

Brain 2008 Mar 30;131(Pt 3):818-28. Epub 2008 Jan 30.

Institute of Clinical Medicine, University of Bergen, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1093/brain/awn007DOI Listing
March 2008

[A man with progressive spastic paraparesis].

Tidsskr Nor Laegeforen 2007 Nov;127(23):3085-7

Nevrologisk avdeling og Institutt for klinisk medisin, Haukeland Universitetssjukehus, 5021 Bergen.

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November 2007

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

Eur J Hum Genet 2007 Jul 11;15(7):779-83. Epub 2007 Apr 11.

Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://www.nature.com/articles/5201831
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http://dx.doi.org/10.1038/sj.ejhg.5201831DOI Listing
July 2007

Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation.

Neuromuscul Disord 2006 Oct 28;16(9-10):559-63. Epub 2006 Aug 28.

Department of Neurology, Haukeland University Hospital, N-5021 Bergen, Norway.

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http://dx.doi.org/10.1016/j.nmd.2006.06.012DOI Listing
October 2006

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Brain 2006 Jul 25;129(Pt 7):1685-92. Epub 2006 Apr 25.

Department of Neurology, Institute of Clinical Medicine, University of Bergen and Haukeland University Hospital Bergen, Norway.

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http://dx.doi.org/10.1093/brain/awl097DOI Listing
July 2006

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.

Neuromuscul Disord 2004 Jul;14(7):417-20

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.nmd.2004.03.004DOI Listing
July 2004

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.

Eur J Hum Genet 2004 Jun;12(6):509-12

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201185DOI Listing
June 2004

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.

Hum Mol Genet 2003 Sep 22;12(18):2341-8. Epub 2003 Jul 22.

Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1093/hmg/ddg238DOI Listing
September 2003

[Dopa-responsive dystonia--a hereditary dystonia easy to treat].

Tidsskr Nor Laegeforen 2002 Feb;122(4):379-81

Nevrologisk avdeling Haukeland Sykehus 5021 Bergen.

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February 2002