Laurence A. Bindoff

Affiliated with

Research Area

Biography

Laurence A. Bindoff has not added Biography.
If you are Laurence A. Bindoff and would like to personalize this page please email our Author Liaison for assistance.

JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 8	2021
Publication title Cited by 2	2023

Other Publications

Article	Year
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. American journal of human genetics\| PubMed ID: 16080118	2005
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain : a journal of neurology\| PubMed ID: 16638794	2006
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain : a journal of neurology\| PubMed ID: 18238797	2008
A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular disorders : NMD\| PubMed ID: 18396045	2008
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochimica et biophysica acta\| PubMed ID: 20206689	2010
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Human molecular genetics\| PubMed ID: 20484224	2010
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. American journal of human genetics\| PubMed ID: 20797687	2010
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. The Lancet. Neurology\| PubMed ID: 21820356	2011
Mitochondrial function and pathology in status epilepticus. Epilepsia\| PubMed ID: 21967349	2011
Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. Mitochondrion\| PubMed ID: 22963882	2012
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain : a journal of neurology\| PubMed ID: 23250882	2012
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet journal of rare diseases\| PubMed ID: 23286897	2013
Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC neurology\| PubMed ID: 23725534	2013
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PloS one\| PubMed ID: 23785480	2013
Rhabdomyolysis after group C streptococcal infection. Infectious disease reports\| PubMed ID: 24470895	2010
A multicenter study on Leigh syndrome: disease course and predictors of survival. Orphanet journal of rare diseases\| PubMed ID: 24731534	2014
Molecular pathogenesis of polymerase γ-related neurodegeneration. Annals of neurology\| PubMed ID: 24841123	2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. PLoS genetics\| PubMed ID: 24901367	2014
High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American journal of ophthalmology\| PubMed ID: 25634536	2015
Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension. EMBO molecular medicine\| PubMed ID: 25825391	2015
HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 25825781	2015
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain : a journal of neurology\| PubMed ID: 26276013	2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Journal of medical genetics\| PubMed ID: 26561570	2016
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO molecular medicine\| PubMed ID: 26697887	2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Human molecular genetics\| PubMed ID: 26740552	2016
Nigrostriatal denervation sine parkinsonism. Brain : a journal of neurology\| PubMed ID: 26811251	2016
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. PloS one\| PubMed ID: 26863430	2016
Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion\| PubMed ID: 26979109	2016
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain : a journal of neurology\| PubMed ID: 27259757	2016
No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion\| PubMed ID: 27838477	2017
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nature communications\| PubMed ID: 27874000	2016
Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. Mitochondrion\| PubMed ID: 28017684	2017
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. PloS one\| PubMed ID: 28052128	2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. JAMA neurology\| PubMed ID: 28395030	2017
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 28471437	2017
Understanding the Epilepsy in POLG Related Disease. International journal of molecular sciences\| PubMed ID: 28837072	2017
The presence of anaemia negatively influences survival in patients with POLG disease. Journal of inherited metabolic disease\| PubMed ID: 28865037	2017
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease. Journal of inherited metabolic disease\| PubMed ID: 28952135	2018
Neurofilament light chain predicts disease activity in relapsing-remitting MS. Neurology(R) neuroimmunology & neuroinflammation\| PubMed ID: 29209636	2018
3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Scientific reports\| PubMed ID: 29352159	2018
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. Cold Spring Harbor molecular case studies\| PubMed ID: 29437797	2018
Mitochondrial ataxias. Handbook of clinical neurology\| PubMed ID: 29891055	2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia\| PubMed ID: 29920680	2018
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. Brain pathology (Zurich, Switzerland)\| PubMed ID: 30021052	2019
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 30228318	2019
Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscular disorders : NMD\| PubMed ID: 30850168	2019
Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway. Cell cycle (Georgetown, Tex.)\| PubMed ID: 31014173	2019
Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fib... Cellular and molecular life sciences : CMLS\| PubMed ID: 31270582	2020
Fever-related ataxia: a case report of CAPOS syndrome. Cerebellum & ataxias\| PubMed ID: 31410291	2019
Mitochondrial complex IV is lost in neurons in the cuprizone mouse model. Mitochondrion\| PubMed ID: 31678601	2020
No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease. Epilepsy & behavior reports\| PubMed ID: 31737865	2019
Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome open research\| PubMed ID: 32090171	2019
A hospital based epidemiological study of genetically determined muscle disease in south western Norway. Neuromuscular disorders : NMD\| PubMed ID: 32146000	2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. Journal of inherited metabolic disease\| PubMed ID: 32391929	2020
Using urine to diagnose large-scale mtDNA deletions in adult patients. Annals of clinical and translational neurology\| PubMed ID: 32634300	2020
Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. EMBO molecular medicine\| PubMed ID: 32840960	2020
The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of clinical and translational neurology\| PubMed ID: 32949115	2020
Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion\| PubMed ID: 32976988	2020
A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96-well microplates. Scientific reports\| PubMed ID: 33116175	2020
Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome". Journal of inherited metabolic disease\| PubMed ID: 33159463	2021
N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation. Experimental neurology\| PubMed ID: 33264635	2021
Serum biomarkers in primary mitochondrial disorders. Brain communications\| PubMed ID: 33501425	2021
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration. Human genetics\| PubMed ID: 33835239	2021
A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. Epileptic disorders : international epilepsy journal with videotape\| PubMed ID: 33881396	2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine\| PubMed ID: 34020708	2021
Genetic Dominant Variants in Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. International journal of molecular sciences\| PubMed ID: 34070858	2021
Mitochondrial disease in adults: recent advances and future promise. The Lancet. Neurology\| PubMed ID: 34146515	2021
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration. Biomedicines\| PubMed ID: 34356897	2021
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish. Frontiers in molecular neuroscience\| PubMed ID: 34630034	2021
Nicotinamide Riboside and Metformin Ameliorate Mitophagy Defect in Induced Pluripotent Stem Cell-Derived Astrocytes With Mutations. Frontiers in cell and developmental biology\| PubMed ID: 34631714	2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Annals of clinical and translational neurology\| PubMed ID: 34662929	2021
Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model. Frontiers in cell and developmental biology\| PubMed ID: 34722525	2021
New treatments for mitochondrial disease-no time to drop our standards. Nature reviews. Neurology\| PubMed ID: 23817350	2013
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. Journal of medical genetics\| PubMed ID: 29101127	2018
Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease. Cell and tissue research\| PubMed ID: 31925525	2020
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Journal of medical genetics\| PubMed ID: 34872991	2023
mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition. Cell cycle (Georgetown, Tex.)\| PubMed ID: 35298342	2022
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. Kidney diseases (Basel, Switzerland)\| PubMed ID: 35527992	2022
Comparing the mitochondrial signatures in ESCs and iPSCs and their neural derivations. Cell cycle (Georgetown, Tex.)\| PubMed ID: 35815665	2022
Musculoskeletal Chronic Graft versus Host Disease-A Rare Complication to Allogeneic Hematopoietic Stem Cell Transplant: A Case-Based Report and Review of the Literature. Current oncology (Toronto, Ont.)\| PubMed ID: 36354723	2022
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020). Neuromuscular disorders : NMD\| PubMed ID: 36522254	2023
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study. Epilepsy research\| PubMed ID: 36731270	2023
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]. Epilepsy research\| PubMed ID: 36906427	2023
POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia. Experimental neurology\| PubMed ID: 37105450	2023