Laurence
Bindoff
Professor
Besøksadresse:
Haukeland Universitetssykehus Laboratoriebygget, 7. etg. Heis øst
5021 Bergen
Postadresse:
Postboks 7804
5021 Bergen
Telefon:
+47 55 97 50 96
E-post:
Tidsskriftartikler
- 2014. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology. 261: 358-362. doi: 10.1007/s00415-013-7203-9
- 2014. A multicenter study on Leigh syndrome: Disease course and predictors of survival. Orphanet Journal of Rare Diseases. 9. doi: 10.1186/1750-1172-9-52
- 2014. Molecular pathogenesis of polymerase gamma-related neurodegeneration. Annals of Neurology. 76: 66-81. doi: 10.1002/ana.24185
- 2014. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLoS ONE. 9. doi: 10.1371/journal.pone.0086340
- 2014. Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA. PLoS Genetics. 10. doi: 10.1371/journal.pgen.1004424
- 2013. Mast cell upregulation in inclusion body myositis: a role for neurogenic inflammation? Neuropathology and Applied Neurobiology. 39: 26-26.
- 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 8. 10 sider. doi: 10.1186/1750-1172-8-1
- 2013. EFNS review on the role of muscle biopsy in the investigation of myalgia. European Journal of Neurology. 20: 997-1005. doi: 10.1111/ene.12174
- 2013. New treatments for mitochondrial disease-no time to drop our standards. Nature Reviews Neurology. 9: 474-481. doi: 10.1038/nrneurol.2013.129
- 2013. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. Developmental Medicine & Child Neurology. 55: 440-447. doi: 10.1111/dmcn.12096
- 2013. MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations. Human Mutation. 34: 292-295. doi: 10.1002/humu.22238
- 2013. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common Exon 5 gene mutation. Human Mutation. 34: 1111-1118. doi: 10.1002/humu.22342
- 2013. Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS ONE. 8. 5 sider. doi: 10.1371/journal.pone.0066145
- 2013. Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain. 136: 2393-2404. doi: 10.1093/brain/awt103
- 2013. Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurology. 13. 4 sider. doi: 10.1186/1471-2377-13-55
- 2012. Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. Mitochondrion (Amsterdam. Print). 12: 640-643. doi: 10.1016/j.mito.2012.08.004
- 2012. Mitochondrial diseases and epilepsy. Epilepsia. 53: 92-97. doi: 10.1111/j.1528-1167.2012.03618.x
- 2012. Focal myositis - A neurogenic phenomenon? Neuromuscular Disorders. 22: 350-354. doi: 10.1016/j.nmd.2011.10.023
- 2012. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain. 135: 3614-3626. doi: 10.1093/brain/aws298
- 2012. Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. Gene. 494: 231-236. doi: 10.1016/j.gene.2011.11.021
- 2012. Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain. 135: 3627-3634. doi: 10.1093/brain/aws223
- 2012. Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. Journal of Neurology. 259: 292-296. doi: 10.1007/s00415-011-6176-9
- 2012. Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) caused by a novel mutation in DARS2. European Journal of Neurology. 19: 728-728. doi: 10.1111/j.1468-1331.2012.03889.x
- 2012. Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. European Journal of Neurology. 19: 63-63.
- 2011. A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis. Clinical Dysmorphology. 20: 75-76. doi: 10.1097/MCD.0b013e328343bad2
- 2011. Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion (Amsterdam. Print). 11: 182-190. doi: 10.1016/j.mito.2010.09.007
- 2011. Når det vanligste ikke er forklaringen. Tidsskrift for Den norske legeforening. 20: 75-76.
- 2011. Mitochondrial function and pathology in status epilepticus. Epilepsia. 52: 6-7. doi: 10.1111/j.1528-1167.2011.03223.x
- 2011. MODELS OF MITOCHONDRIAL DISEASE AND HOW THESE ARE BEING USED TO IDENTIFY NOVEL TREATMENTS. European Journal of Neurology. 18: 624-624.
- 2011. Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway. Advances in Clinical Neurosciences. 11: 20-21.
- 2011. A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. Journal of Parkinson's Disease. 1: 119-122. doi: 10.3233/JPD-2011-11006
- 2011. The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A. 155A: 2397-2408. doi: 10.1002/ajmg.a.34178
- 2011. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscular Disorders. 21: 41-46. doi: 10.1016/j.nmd.2010.08.008
- 2011. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurology. 10: 806-818. doi: 10.1016/S1474-4422(11)70155-2
- 2011. A family with atypical CADASIL. Journal of Neurology. 258: 1888-1889. doi: 10.1007/s00415-011-6023-z
- 2010. Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 20: 680-680. doi: 10.1016/j.nmd.2010.07.266
- 2010. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 87: 410-417. doi: 10.1016/j.ajhg.2010.08.002
- 2010. What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? Neuromuscular Disorders. 20: S26-S26.
- 2010. Rhabdomyolysis after group C streptococcal infection. Infectious Disease Reports. 2:e15: 49-50.
- 2010. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. Acta Neurologica Scandinavica. 121: 109-113. doi: 10.1111/j.1600-0404.2009.01243.x
- 2010. Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochimica et Biophysica Acta - Molecular Basis of Disease. 1802: 539-544. doi: 10.1016/j.bbadis.2010.02.010
- 2010. Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells. Neuromuscular Disorders. 20: 676-676. doi: 10.1016/j.nmd.2010.07.254
- 2010. Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain. 133: 1428-1437. doi: 10.1093/brain/awq067
- 2010. Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. European Journal of Neurology. 17: 71-71.
- 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 133: 771-786. doi: 10.1093/brain/awq007
- 2010. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Human Molecular Genetics. 19: 3043-3052. doi: 10.1093/hmg/ddq209
- 2009. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 72: 20-27. doi: 10.1212/01.wnl.0000333664.90605.23
- 2009. Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. Epilepsy & Behavior. 16: 172-174. doi: 10.1016/j.yebeh.2009.01.014
- 2009. Neuropsychological performance of patients with polg1 mutation and epilepsy: evidence of more pronounced right than left hemisphere dysfunction? Epilepsia. 50: 119-119. doi: 10.1111/j.1528-1167.2009.02063.x
- 2009. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics. 41: 95-100. doi: 10.1038/ng.270
- 2009. An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. European Journal of Human Genetics. 17: 967-975. doi: 10.1038/ejhg.2008.266
- 2009. Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. Stroke. 40: E15-E17. doi: 10.1161/STROKEAHA.108.523118
- 2009. Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. Acta Neurologica Scandinavica. 120: 38-41. doi: 10.1111/j.1600-0404.2009.01212.x
- 2009. MRI and neuropathology findings in three patients with the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). Neuropathology and Applied Neurobiology. 35: 20-20.
- 2008. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular Disorders. 18: 310-314. doi: 10.1016/j.nmd.2008.01.003
- 2008. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain. 131: 818-828. doi: 10.1093/brain/awn007
- 2008. Palatal tremor and facial dyskinesia in a patient with POLG1 mutation. Movement Disorders. 23: 1624-1626. doi: 10.1002/mds.22178
- 2008. Correlation between genetic and geographic structure in Europe. Current Biology. 18: 1241-1248. doi: 10.1016/j.cub.2008.07.049
- 2008. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. Journal of Neurology. 255: 1142-1144. doi: 10.1007/s00415-008-0858-y
- 2008. Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 31: 1738-1740. doi: 10.2337/dc07-2217
- 2007. Reply to Chinnery. Brain. 130: E70.
- 2007. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. European Journal of Human Genetics. 15: 779-783. doi: 10.1038/sj.ejhg.5201831
- 2007. Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. Acta Neurologica Scandinavica. 115: 64-67. doi: 10.1111/j.1600-0404.2007.00850.x
- 2007. En mann med progredierende spastisk paraparese. Tidsskrift for Den norske legeforening. 127: 3085-3087.
- 2007. MELAS associated with mutations in the POLG1 gene. Neurology. 09.
- 2007. Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. European Journal of Neurology. 14: 240-240.
- 2007. Cerebral imaging in mitochondrial spinocerebellar ataxia caused by POLG mutations shows diagnostic specificity and provides insight into disease evolution. European Journal of Neurology. 14: 14-15.
- 2006. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscular Disorders. 16: 559-563.
- 2006. The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. Epilepsia. 47: 248-248.
- 2006. Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNA Leu(UUR))) gene. Nucleic Acids Research. 34: 6404-6415. doi: 10.1093/nar/gkl727
- 2006. Molecular background of mitochondrial recessive ataxia syndrome, MIRAS. The FASEB Journal. 20: A920-A920.
- 2006. Late-onset mitochondrial encephalomyopathy with stroke-like episodes and novel mitochondrial DNA mutation. European Journal of Neurology. 13: 40-40.
- 2006. Unusual features in a boy with the rapsyn N88K mutation. Neurology. 2. 2262-2263.
- 2006. The clinical spectrum of disease in 26 patients with G1399A or G2243C mutations in the gene encoding the catalytic subunit of mitochondrial DNA-polymerase gamma. European Journal of Neurology. 13: 40-40.
- 2006. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain. 129: 1685-1692. doi: 10.1093/brain/awl097
- 2005. Mitochondrial DNA polymerase W748S mutation: A new common cause of spinocerebellar ataxia with ancient European origin. American Journal of Human Genetics. 77: 430-441.
- 2005. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 64: 1204-1208.
- 2004. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA(Ser(UCN)) gene. Neuromuscular Disorders. 14: 417-420.
- 2004. Risk of developing a mitochondrial DNA deletion disorder. The Lancet. 364: 592-596.
- 2004. Muscular diseases in the sun. Tidsskrift for Den norske legeforening. 124: 1754.
- 2004. Sporadic mitochondrial myopathy due to a new mutation in the mitochondric tRNASer/UCN) gene. Neuromuscular Disorders. 14: 417-420.
- 2004. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Biochimica et Biophysica Acta - Bioenergetics. 1657: 29-29.
- 2004. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics. 12: 509-512.
- 2003. Arvelige muskelsykdommer. Tidsskrift for Den norske legeforening. 123: 2588-2592.
- 2003. Tthe treatment of mitochondrial disorders. Neuromuscular Disorders. 13: 757-764.
- 2003. Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. Acta Anaesthesiologica Scandinavica. 47: 630-634.
- 2003. Late onset mitochondrial disorder with electromyographical evidence of myotonia. Muscle &Nerve. 28: 757-759.
- 2003. Phenotype modulators in myophosphorylase deficiency. Annals of Neurology. 53: 497-502.
- 2003. Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures. European Journal of Neurology. 10: 746-747.
- 2003. Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitrochondria. Human Molecular Genetics. 12: 2341-2348.
- 2002. A patient that changed my practice. Practical Neurology. 2: 302-303.
- 2002. Doparesponsiv dystoni - en arvelig dystoni som er lett å behandle. Tidsskrift for Den norske legeforening. 122: 379-381.
- 2002. Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature. Thyroid. 12: 77-80.
- 2002. Tyreotoksisk periodisk paralyse - en uvanlig komplikasjon ved hypertyreose. Tidsskrift for Den norske legeforening. 122: 1029-1031.
- 2002. Cystic Dilatation of Virchow-Robin Spaces in the Midbrain. European Neurology. 47: 186-188.
- 2001. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics. 28: 350-354.
- 2001. Acute dystoni ved behandling med metoklopramid (Afipran). Tidsskrift for Den norske legeforening. 121: 2162-2163.
- 2000. Muskelklinikken i Bergen. Muskelsyk. 4. 13-14.
- 2000. Muskelklinikken i Bergen. Muskelsyk. 4. 13-14.
- 2000. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 48: 188-193.
- 2000. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 48: 188-193.
- 2000. Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 172: 1-6.
- 2000. Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 172: 1-6.
- 1999. Treatment of mitochondrial disorders: practical and theoretical issues. European journal of paediatric neurology. 3: 201-208.
- 1999. Non-radom tissue distribution of mutant mtDNA in humans. American Journal of Medical Genetics. 85: 498-501.
- 1999. Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. Gene. 230: 241-247.
- 1999. Loss of function SURF I mutations in cytochrome c oxidase deficiency. Annals of Neurology. 161-166.
- 1999. A common disease haploltype segretating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. European Journal of Human Genetics. 841-845.
- 1998. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain. 121: 581-588.
- 1998. Facial vasculitic rash associated with intravenous immuglobulin. BMJ (British Medical Journal). 317: 1291-1291.
Bokkapitler
- 2012. Ataxia in mitochondrial disorders. Chapter 22, sider 359-372. I:
- 2012. Handbook of Clinical Neurology. Elsevier. 663 sider. ISBN: 978-0-444-51892-7.
- 2011. Mitochondrial cytopathies. Progressive myoclonic epilepsies, sider 147-158. I:
- 2011. The Causes of Epilepsy. Common and uncommon causes in adults and in children. Cambridge University Press. 767 sider. ISBN: 978-0521114479.
- 2007. Muskelsykdommer. Kapittel, sider 229-244. I:
- 2007. Nevrologi og nevrokirurgi fra barn til voksen; undersøkelse-diagnose-behandling. 631 sider. ISBN: 9788241206283.
- 2003. Muskelsykdommer. Kapittel, sider 215-230. I:
- 2003. Nevrologi og Nevrokirurgi. Fra barn til voksen. Undersøkelse, diagnose, behandling. [3. rev. utg.]. Forlaget Vett & Viten. 671 sider. ISBN: 82-412-0556-2.
- 2002. Mitochondrial dysfunction and the gastrointestinal system. I:
- 2002. Mitochondrial disorders: from pathophysiology to acquired defect. Springer.