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List of works by Anthony H V Schapira

A 31P magnetic resonance spectroscopy study of mitochondrial function in skeletal muscle of patients with Parkinson's disease

scientific article published on 01 August 1994

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers.

scientific article published on 15 February 2017

A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers

scientific article

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

scientific article published in July 2003

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

scientific article published on 25 February 2004

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

scientific journal article

A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein

scientific article published in April 1990

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

scientific article

A novel α-synuclein missense mutation in Parkinson disease

scientific article published on 20 February 2013

A proposal for a comprehensive grading of Parkinson's disease severity combining motor and non-motor assessments: meeting an unmet need

scientific article

A randomized, double-blind, placebo-controlled trial of safinamide as add-on therapy in early Parkinson's disease patients

scholarly article by Fabrizio Stocchi et al published 12 September 2011 in Movement Disorders

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

scientific article published on 12 June 2013

Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease

scientific article published on 11 April 2019

Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy

scientific article published in July 2000

Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy

Advances and insights into neurological practice 2016-17.

scientific article published on 16 October 2017

Advances in neurological research and practice

scientific article published on 01 December 2016

Advances in neurology 2011–12 ⬇️

scientific article published on 01 October 2012

Aetiopathogenesis of Parkinson’s disease ⬇️

scientific article published on May 1, 2011

Alpha-synuclein expression in HEK293 cells enhances the mitochondrial sensitivity to rotenone

scientific article published on November 2003

Alterations in levels of iron, ferritin, and other trace metals in neurodegenerative diseases affecting the basal ganglia. The Royal Kings and Queens Parkinson's Disease Research Group

scientific article published on January 1, 1992

Ambroxol effects in glucocerebrosidase and α-synuclein transgenic mice

scientific article

Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial

scientific article published on 13 January 2020

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

scientific article

Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing

scientific article published on 01 November 1992

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

scientific article

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

scientific article

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

scientific article published on 13 April 2010

Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease.

scientific article published on 8 December 2004

Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease

scientific article

Antibodies to human optic nerve in Leber's hereditary optic neuropathy

scientific article published on 01 June 1995

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

scientific article published in May 2001

Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up

scientific article

Assessment of Safety and Efficacy of Safinamide as a Levodopa Adjunct in Patients With Parkinson Disease and Motor Fluctuations: A Randomized Clinical Trial

scientific article published on 12 December 2016

Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents.

scientific article published on August 2005

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease

scientific article published on 04 July 2016

Bimodal administration of entacapone in Parkinson's disease patients improves motor control

scientific article

Biochemical abnormalities and excitotoxicity in Huntington's disease brain.

scientific article published in January 1999

Biochemical and molecular aspects of human mitochondrial respiratory chain disorders

scientific article published on 01 August 1990

Biofluid Biomarkers in Parkinson's Disease: Clarity Amid Controversy

scientific article published on 27 March 2020

Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease

scientific article published on 05 December 2020

Brain, skeletal muscle and platelet homogenate mitochondrial function in Parkinson's disease ⬇️

scientific article published on April 1, 1992

British neurology: a national focus

scientific article

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

scientific article published on 11 May 2016

Calcium dysregulation in Parkinson’s disease ⬇️

scientific article published on June 20, 2013

Cardiac bioenergetics in Friedreich's ataxia

scientific article published on 01 October 2003

Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.

scientific article

Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis

scientific article

Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes

scientific article published on December 2012

Challenges to the development of disease‐modifying therapies in Parkinson’s disease ⬇️

scientific article published on 01 March 2011

Changing the research criteria for the diagnosis of Parkinson's disease: obstacles and opportunities

scientific article

Chaperone-mediated autophagy as a therapeutic target for Parkinson disease

scientific article published on 10 September 2018

Chaperone-mediated autophagy markers in Parkinson disease brains

scientific journal article

Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

scientific article

Clinical correlates of mitochondrial function in Huntington's disease muscle

scientific article

Clinical correlation of brain MRI and MRS abnormalities in patients with Wilson disease

scientific article

Clinical prodromes of neurodegeneration in Anderson-Fabry disease

scientific article

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

scientific article published on 01 January 2000

Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy

scientific article

Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy

scientific article published in December 2008

Colloidal Gold Staining and Immunodetection in 2-D Protein Mapping

scientific article published on January 1, 1992

Colloidal Gold Staining and Immunodetection in 2D Protein Mapping ⬇️

scientific article published on January 1, 1998

Comment from the EFNS Scientific Committee on the letter from Gunther Haag concerning Bendsten L et al. EFNS guideline on the treatment of tension-type headache--report of an EFNS task force. Eur J Neurol 2010; 17: 1318-1325

scientific article published on 01 July 2011

Compensatory mechanisms in Parkinson's disease

scientific article published in January 2009

Complex I function in familial and sporadic dystonia

scientific article published on 01 April 1997

Complex I inhibitors induce dose-dependent apoptosis in PC12 cells: relevance to Parkinson's disease

scientific article published on November 1994

Complex I, iron, and ferritin in Parkinson's disease substantia nigra

scientific article published on December 1994

Complex I: inhibitors, inhibition and neurodegeneration

scientific article published on April 2010

Consensus on the treatment of dysphagia in Parkinson's disease

scientific article published in 2021

Continuous subcutaneous infusion of pramipexole protects against lipopolysaccharide-induced dopaminergic cell death without affecting the inflammatory response.

scientific article published on 14 May 2008

Coordinating outcomes measurement in ataxia research: do some widely used generic rating scales tick the boxes?

scientific article published in September 2006

Correction: A Proposal for a Comprehensive Grading of Parkinson's Disease Severity Combining Motor and Non-Motor Assessments: Meeting an Unmet Need

scientific article published on 19 February 2016

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

scientific article published on 27 January 2012

Corrigendum to "Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study" [Mol. Genet. Metab. 109 (2013) 221-223].

scientific article published on 21 January 2014

Creatine therapy for Huntington's disease: clinical and MRS findings in a 1-year pilot study.

scientific article published in July 2003

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

scientific article

Cyclosporin inhibition of apoptosis induced by mitochondrial complex I toxins

scientific article published in October 1998

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

scientific article

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

scientific article published on 01 March 2000

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis

scientific article published on 21 December 2017

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis

scientific article published in October 2017

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

scientific article

Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease

scientific article published on 01 June 1992

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

scientific article published on September 1999

Detection of nitrosyl complexes in human substantia nigra, in relation to Parkinson's disease

scientific article

Diagnosing restless legs syndrome (RLS) in primary care

scientific article

Differences in toxicity of the catechol-O-methyl transferase inhibitors, tolcapone and entacapone to cultured human neuroblastoma cells

scientific article published in March 2004

Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology.

scientific article published on 3 June 2009

Direct mobilisation of lysosomal Ca2+ triggers complex Ca2+ signals

scientific article published on 29 October 2012

Disease modification in Parkinson's disease

scientific article published on June 2004

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

scientific article

Dopamine agonists and neuroprotection in Parkinson's disease

scientific article

Dopamine agonists in Parkinson's disease

scientific article

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis

scientific article

Drug selection and timing of initiation of treatment in early Parkinson's disease

scientific article

Dysregulation of lysosomal morphology by pathogenic LRRK2 is corrected by TPC2 inhibition

scientific article

Early versus delayed initiation of pharmacotherapy in Parkinson's disease

scientific article published on April 2014

Effects of ambroxol on the autophagy-lysosome pathway and mitochondria in primary cortical neurons.

scientific article

Efficacy and safety of extended- versus immediate-release pramipexole in Japanese patients with advanced and L-dopa-undertreated Parkinson disease: a double-blind, randomized trial

scientific article published on 01 July 2012

Efficacy, safety, and tolerability of overnight switching from immediate- to once daily extended-release pramipexole in early Parkinson's disease

scientific article published on October 2010

End-of-dose Wearing Off in Parkinson Disease

article

Endo-lysosomal TRP mucolipin-1 channels trigger global ER Ca2+ release and Ca2+ influx

scientific article

Endoplasmic reticulum and lysosomal Ca²⁺ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts

scientific article

Enhancing the Activity of Glucocerebrosidase as a Treatment for Parkinson Disease

scientific article published on 01 July 2020

Etiology and pathogenesis of Parkinson disease.

scientific article published in August 2009

Etiology and pathogenesis of Parkinson's disease

scientific article published on 01 May 2011

Etiology of Parkinson's disease

scientific article published on 01 May 2006

Etiopathogenesis and treatment of Parkinson's disease

scientific article published on January 2009

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

scientific article published on 13 January 2019

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers

scientific article published on 28 June 2019

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

scientific article

Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study

scientific article published on 20 June 2019

Excessive daytime sleepiness in Parkinson's disease

scientific article published in October 2004

Expression of mutant alpha-synuclein causes increased susceptibility to dopamine toxicity

scientific article

Extended-release pramipexole in advanced Parkinson disease: a randomized controlled trial

scientific article published on 10 August 2011

Extended-release pramipexole in early Parkinson disease: a 33-week randomized controlled trial

scientific article published on 10 August 2011

Factors predictive of the development of Levodopa-induced dyskinesia and wearing-off in Parkinson's disease

scientific article published on 29 April 2013

Free radical scavengers protect dopaminergic cell lines from apoptosis induced by complex I inhibitors

scientific article published in November 1997

Free radicals and mitochondrial dysfunction in Parkinson's disease

scientific article

Friedreich's Ataxia: disease mechanisms, antioxidant and Coenzyme Q10 therapy

scientific article published on January 2003

Friedreich's ataxia impact scale: a new measure striving to provide the flexibility required by today's studies

scientific article published in May 2009

Friedreich's ataxia: coenzyme Q10 and vitamin E therapy

scientific article

Friedreich's ataxia: from disease mechanisms to therapeutic interventions

scientific article

Functional assessment of glucocerebrosidase modulator efficacy in primary patient-derived macrophages is essential for drug development and patient stratification

scientific article published on 26 September 2019

Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

scientific article published on 01 May 1999

Future directions in the treatment of Parkinson's disease

scientific article published on September 2007

Future strategies for neuroprotection in Parkinson's disease

scientific article

G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization

scientific article

G209A mutant alpha synuclein expression specifically enhances dopamine induced oxidative damage

scientific article published on October 2004

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

scientific article published on 10 January 2018

Gene expression in Huntington's disease skeletal muscle: a potential biomarker

scientific article published on 11 May 2005

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

article

Genetic and environmental factors in the cause of Parkinson's disease

scientific article

Genetic causes of PD: A pathway to disease modification

scientific article published on 29 February 2020

Genetic counselling in mitochondrial diseases ⬇️

scientific article published on October 1, 1997

Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death

scientific article

Glucocerebrosidase Gene Mutation and Preclinical Markers of Parkinson Disease-Reply

scientific article published on 01 June 2015

Glucocerebrosidase Mutations in Parkinson Disease

scientific article

Glucocerebrosidase activity, cathepsin D and monomeric α-synuclein interactions in a stem cell derived neuronal model of a PD associated GBA1 mutation

scientific article published on 18 October 2019

Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications

scientific article published in February 2018

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

scientific article published on September 2012

Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons

scientific article published on 11 May 2020

Glucocerebrosidase in Parkinson's disease: Insights into pathogenesis and prospects for treatment

scientific article published on 19 April 2016

Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease

scientific article published on 14 February 2013

Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine

scientific article published on 27 December 2018

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

scientific article published on December 2013

Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations

scientific article published on 10 June 2013

Guidelines for the use and interpretation of assays for monitoring autophagy

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

article by Daniel J Klionsky et al published January 2021 in Autophagy

HLA class I genotypes in Leber's hereditary optic neuropathy

scientific article published on 01 February 1996

HLA class II genotypes in Leber's hereditary optic neuropathy

scientific article published on 01 November 1994

High-dose creatine therapy for Huntington disease: a 2-year clinical and MRS study.

scientific article published in May 2005

Human complex I defects in neurodegenerative diseases ⬇️

scientific article published on May 6, 1998

Human mitochondrial complex I dysfunction ⬇️

scientific article published on July 17, 1992

Human mitochondrial respiratory chain deficiencies

scientific article published on January 1988

Hunting for genes in essential tremor

scientific article published in September 2008

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

scientific article

Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit

scientific article published on 01 August 2001

In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

scientific article published on 01 October 1997

Inborn and induced defects of the mitochondrial respiratory chain

scientific article

Inclusion formation in Huntington's disease R6/2 mouse muscle cultures

scientific article published in October 2003

Indices of oxidative stress and mitochondrial function in individuals with incidental Lewy body disease

scientific article published on January 1994

Indices of oxidative stress in Parkinson's disease, Alzheimer's disease and dementia with Lewy bodies.

scientific article published on January 1997

Influence of microRNA deregulation on chaperone-mediated autophagy and α-synuclein pathology in Parkinson's disease.

scientific article published on 14 March 2013

Insights into the structural biology of Gaucher disease

scientific article published on 15 September 2017

International Cooperative Ataxia Rating Scale (ICARS): appropriate for studies of Friedreich's ataxia?

scientific article published on 01 December 2005

International multicenter pilot study of the first comprehensive self-completed nonmotor symptoms questionnaire for Parkinson's disease: the NMSQuest study

scientific article published in July 2006

Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease

scientific article published on 22 October 2020

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

scientific article published on 23 December 2019

Iron induced oxidative stress and mitochondrial dysfunction: relevance to Parkinson's disease

scientific article published on 01 November 1993

Irreversible inhibition of mitochondrial complex I by 1-methyl-4-phenylpyridinium: evidence for free radical involvement

scientific article published on 01 February 1992

Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process.

scientific article published on 23 February 2005

L-dihydroxyphenylalanine and complex I deficiency in Parkinson's disease brain

scientific article published on May 1995

L444P Gba1 mutation increases formation and spread of α-synuclein deposits in mice injected with mouse α-synuclein pre-formed fibrils

scientific article published on 24 August 2020

LRRK2 Parkinsonism: Does the Response to Gut Bacteria Mitigate the Neurological Picture?

scientific article published on 27 October 2020

LRRK2 as a therapeutic target in Parkinson's disease

scientific article published on 29 December 2010

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

scientific article published on September 2004

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

scientific article

Levodopa in the treatment of Parkinson's disease

scientific article published on 15 June 2009

Liver failure associated with mitochondrial DNA depletion

scientific article published on 01 April 1998

Long-term efficacy and safety of safinamide as add-on therapy in early Parkinson's disease

scientific article

Long-term safety and sustained efficacy of extended-release pramipexole in early and advanced Parkinson's disease

scientific article

Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission.

scientific article published on 18 February 2011

MPTP and other Parkinson-inducing agents

scientific article published on June 1, 1992

Meclizine-induced enhanced glycolysis is neuroprotective in Parkinson disease cell models

scientific article published on 5 May 2016

Minimal clinically important difference in Parkinson's disease as assessed in pivotal trials of pramipexole extended release

scientific article published on April 2014

Missing pieces in the Parkinson's disease puzzle

scientific article

MitBASE : a comprehensive and integrated mitochondrial DNA database. The present status

scientific article published on January 2000

MitBASE: a comprehensive and integrated mitochondrial DNA database

scientific article published on January 1999

Mitochondria and amyotrophic lateral sclerosis

scientific article

Mitochondria and degenerative disorders

scientific article

Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease

scientific journal article

Mitochondria in the aetiology and pathogenesis of Parkinson's disease

scientific article published on January 2008

Mitochondria in the etiology and pathogenesis of Parkinson's disease

scholarly article by A H Schapira et al published September 1998 in Annals of Neurology

Mitochondria in the etiology and pathogenesis of parkinson's disease

scientific article published in September 1998

Mitochondria in the etiology of Parkinson's disease

scientific article published on 01 January 2007

Mitochondrial Contribution to Parkinson's Disease Pathogenesis ⬇️

scientific article published on April 28, 2011

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype

scientific article published in May 1995

Mitochondrial DNA analysis in Parkinson's disease

scientific article published on 01 January 1990

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

scientific article published on July 1999

Mitochondrial DNA in focal dystonia: A cybrid analysis

scientific article published on 01 August 1998

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

scientific article

Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

scientific article published on August 1998

Mitochondrial and lysosomal biogenesis are activated following PINK1/parkin-mediated mitophagy

scientific article published on 28 October 2015

Mitochondrial complex I deficiency in Parkinson's disease

scientific article published on March 1990

Mitochondrial complex I deficiency in Parkinson's disease

scientific article published on 01 June 1989

Mitochondrial defect in Huntington's disease caudate nucleus

scientific article published in March 1996

Mitochondrial disease

scientific article

Mitochondrial diseases

scientific article published on 05 April 2012

Mitochondrial disorders: an overview

scientific article published on 01 April 1997

Mitochondrial dysfunction and free radical damage in the Huntington R6/2 transgenic mouse

scientific article published in January 2000

Mitochondrial dysfunction and free radical damage in the Huntington R6/2 transgenic mouse.

scientific article published in January 2000

Mitochondrial dysfunction associated with glucocerebrosidase deficiency

scientific journal article

Mitochondrial dysfunction associated with neuronal death following status epilepticus in rat.

scientific article published in February 2002

Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives

scientific article

Mitochondrial dysfunction in Parkinson's disease

scientific article published on 27 April 2007

Mitochondrial dysfunction in friedreich's ataxia

scientific article

Mitochondrial dysfunction in glaucoma: understanding genetic influences.

scientific article

Mitochondrial dysfunction in neurodegeneration

scientific article

Mitochondrial dysfunction in neurodegenerative diseases.

scientific article

Mitochondrial function and parental sex effect in Huntington's disease

scientific article published in September 1990

Mitochondrial function in Alzheimer's disease

scientific article

Mitochondrial function in Parkinson's disease. The Royal Kings and Queens Parkinson's Disease Research Group

scientific article published on January 1992

Mitochondrial function, GSH and iron in neurodegeneration and Lewy body diseases.

scientific article published in June 1998

Mitochondrial impairment increases FL-PINK1 levels by calcium-dependent gene expression

scientific journal article

Mitochondrial involvement in Parkinson's disease

scientific article

Mitochondrial matters of the brain: the role in Huntington's disease

scientific article

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

scientific article published on 01 December 1989

Mitochondrial myopathies: clinical defects

scientific article published on 01 August 1990

Mitochondrial myopathies: genetic defects

scientific article published on August 1990

Mitochondrial myopathy with a defect of mitochondrial-protein transport

scientific article published on 01 July 1990

Mitochondrial pathology in Parkinson's disease

scientific article

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

scientific article

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

scientific article

Mitochondrial respiratory chain function in multiple system atrophy

scientific article published on May 1997

Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy

scientific article

Molecular and clinical pathways to neuroprotection of dopaminergic drugs in Parkinson disease

scientific article published on February 2009

Molecular and clinical prodrome of Parkinson disease: implications for treatment

scientific article published on 18 May 2010

Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency

scientific article published on 01 March 1988

Molecular changes in the postmortem parkinsonian brain

scientific article

Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases

scientific article published on June 1988

Molecular mechanisms in mitochondrial DNA depletion syndrome

scientific article published on 01 June 1997

Monoamine oxidase B inhibitors for the treatment of Parkinson's disease: a review of symptomatic and potential disease-modifying effects

scientific article published on December 2011

Movement disorders: advances in cause and treatment

scientific article published in January 2010

Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts

scientific article

Myasthenia Gravis: A Case Report ⬇️

scientific article published on 01 August 1981

Neurobiology and treatment of Parkinson's disease

scientific article

Neurodegenerative diseases in the era of targeted therapeutics: how to handle a tangled issue

scientific article published on 06 March 2015

Neurological effects of GBA mutations

article

Neurology in evolution 2014-2015

scientific article published on 01 December 2015

Neuroprotection and dopamine agonists

scientific article

Neuroprotection for Parkinson's disease: prospects and promises

scientific article published on January 2003

Neuroprotection in PD—A role for dopamine agonists? ⬇️

scientific article published on September 23, 2003

Neuroprotection in Parkinson disease: mysteries, myths, and misconceptions

scientific article published on January 2004

Neuroprotection in Parkinson's disease

scientific article published on December 2009

New LRRK2 variants identified in Parkinson's disease

scientific article published on 01 March 2011

New insights into the cause of Parkinson's disease

scientific article published on December 1, 1992

Nitric oxide enhances MPP(+) inhibition of complex I.

scientific article published in August 2001

No evidence for substrate accumulation in Parkinson brains with GBA mutations

scientific article published on 11 June 2015

Non-motor features of Parkinson disease

scientific article published on 8 June 2017

Non-motor features of Parkinson disease

scientific article published on 13 July 2017

Non-motor symptoms of Parkinson's disease: diagnosis and management

scientific article

Non-motor symptoms of Parkinson's disease: dopaminergic pathophysiology and treatment

scientific article published on May 2009

Nonmotor Symptoms in Experimental Models of Parkinson's Disease

scientific article published on 10 July 2017

Normal in vivo skeletal muscle oxidative metabolism in sporadic inclusion body myositis assessed by 31P-magnetic resonance spectroscopy

scientific article published in November 1998

Novel pathogenic mutations in the glucocerebrosidase locus

scientific article

Novel pharmacological targets for the treatment of Parkinson's disease

scientific article published on October 2006

Nuclear and mitochondrial genetics in Parkinson's disease ⬇️

scientific article published on June 1, 1995

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

scientific article published on September 1993

One-step immunoaffinity purification of complex I subunits from beef heart mitochondria

scientific article published on 01 June 1992

Optimizing treatment for Parkinson's disease

scientific article published on 01 December 2012

Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate.

scientific article

Oxidative stress and Parkinson's disease.

scientific article

Oxidative stress as a cause of nigral cell death in Parkinson's disease and incidental Lewy body disease. The Royal Kings and Queens Parkinson's Disease Research Group

scientific article published on January 1, 1992

Oxidative-phosphorylation defects in liver of patients with Wilson's disease

scientific article published on 01 August 2000

PINK1 disables the anti-fission machinery to segregate damaged mitochondria for mitophagy

scientific article published on 18 April 2016

PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis ⬇️

scientific article published on February 1, 2011

PREPARED: Comparison of prolonged and immediate release ropinirole in advanced Parkinson's disease

scientific article published on 05 April 2011

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

scientific article

Parkinson disease

scientific article published on 27 November 2019

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models

scientific article published on 19 August 2016

Parkinson disease: Parkinson disease clinical subtypes and their implications

scientific article published on 22 March 2011

Parkinson's Disease Symposium Review 1992.

scientific article published in October 1994

Parkinson's disease

scientific article published on 01 January 2002

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

scientific article published on 23 August 2011

Parkinsonism in patients with chronic hepatitis C treated with interferon-alpha2b: a report of two cases

scientific article published in May 2010

Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease

scientific article published on 17 October 2024

Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy

scientific article published in September 2017

Pathogenetic insights into young-onset Parkinson disease

scientific article published on 24 March 2020

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

scientific article

Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation

scientific journal article

Pathogenic mechanisms of neurodegeneration in Parkinson disease

scientific article published on February 2015

Patient-reported convenience of once-daily versus three-times-daily dosing during long-term studies of pramipexole in early and advanced Parkinson's disease

scientific article published on 27 April 2012

Patterns of treatment for restless legs syndrome in primary care in the United Kingdom

scientific article

Perspectives on recent advances in the understanding and treatment of Parkinson's disease

scientific article published on 30 August 2009

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)

Platelet mitochondrial DNA in Parkinson's disease

scholarly article by Schapira AH & Marsden CD published 1 January 1994 in Movement Disorders

Platelet mitochondrial function in Leber's hereditary optic neuropathy

scientific article published on 01 March 1994

Platelet mitochondrial function in Parkinson's disease. The Royal Kings and Queens Parkinson Disease Research Group

scientific article published on 01 December 1992

Polyphenotypic expression of mitochondrial toxicity caused by nucleoside reverse transcriptase inhibitors.

scientific article published in June 2003

Practical recommendations for the process of proposing, planning and writing a neurological management guideline by EAN task forces

scientific article published on 12 August 2015

Pramipexole Reduces Phosphorylation of α-Synuclein at Serine-129 ⬇️

scientific article published on May 18, 2013

Pramipexole in patients with early Parkinson's disease (PROUD): a randomised delayed-start trial

scientific article published on 31 May 2013

Pramipexole protects against MPTP toxicity in non-human primates

scientific article published on 8 February 2006

Pramipexole protects against apoptotic cell death by non-dopaminergic mechanisms

scientific article

Prevalence of nonmotor symptoms in Parkinson's disease in an international setting; study using nonmotor symptoms questionnaire in 545 patients

scientific article published in August 2007

Priorities in Parkinson's disease research

scientific article published on May 2011

Progress in European neurology 2012-2013.

scientific article published in December 2013

Progress in neurology 2017-2018

article

Progress in neuroprotection in Parkinson's disease

scientific article published on April 2008

Proteasomal inhibition causes loss of nigral tyrosine hydroxylase neurons

scientific article published in August 2006

Protection against paraquat and A53T alpha-synuclein toxicity by cabergoline is partially mediated by dopamine receptors

scientific article

Quantitation of a mitochondrial DNA deletion in Parkinson's disease

scientific article published on March 16, 1992

RLS patients: who are they?

scientific article published on October 2006

Randomized, double-blind, multicenter evaluation of pramipexole extended release once daily in early Parkinson's disease

scientific article published on November 2010

Rasagiline in neurodegeneration

scientific article published on 16 May 2008

Rasagiline protects against alpha-synuclein induced sensitivity to oxidative stress in dopaminergic cells

scientific article published on 17 July 2010

Rationale for delayed-start study of pramipexole in Parkinson's disease: the PROUD study

scientific article published in August 2010

Rationale for the use of dopamine agonists as neuroprotective agents in Parkinson's disease

scientific article

Recent advances in neurology 2013-2014

scientific article published on 01 December 2014

Recent developments in biomarkers in Parkinson disease ⬇️

scientific article published on August 1, 2013

Recharging mitochondrial batteries in old eyes. Near infra-red increases ATP.

scientific article published on 12 March 2014

Relapsing neuropathy in an 18-year-old woman

scientific article published on February 2007

Relationship between alpha synuclein phosphorylation, proteasomal inhibition and cell death: relevance to Parkinson's disease pathogenesis

scientific article

Resistance to the most common optic neuropathy is associated with systemic mitochondrial efficiency

scientific article published on 6 June 2015

Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication

scientific article published on February 1995

Restless legs syndrome: an update on treatment options

scientific article published on January 2004

Retinal thinning in Gaucher disease patients and carriers: results of a pilot study

scientific article published on 10 April 2013

Reversible inhibition of cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, by nitric oxide. Implications for neurodegenerative diseases

scientific article published on 01 May 1994

Role of oxidative damage in Friedreich's ataxia

scientific article published in March 2004

Role of the pharmacist in the effective management of wearing-off in Parkinson's disease

scientific article published on 18 September 2007

Ropinirole monotherapy induced severe reversible dyskinesias in Parkinson's disease

scientific article

Rotigotine transdermal patch in early Parkinson's disease: a randomized, double-blind, controlled study versus placebo and ropinirole

scientific article published in December 2007

Safinamide in the treatment of Parkinson's disease

scientific article published on September 2010

Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

scientific article

Secondary abnormalities of mitochondrial DNA associated with neurodegeneration

scientific article

Sensitivity of respiratory chain activities to lipid peroxidation: effect of vitamin E deficiency

scientific article

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

scientific article

Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells

scientific article

Sirkka-Liisa Leinonen

scientific article

Slowing of neurodegeneration in Parkinson's disease and Huntington's disease: future therapeutic perspectives

scientific article

Smoking and mitochondrial function: a model for environmental toxins

scientific article published on 01 October 1993

Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data

scientific article

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains

scientific article published on 01 August 2018

Somatic copy number variant mutations in alpha-synuclein and genome-wide in brains of synucleinopathy cases

scientific article published in 2022

Sporadic inclusion body myositis not linked to prion protein codon 129 methionine homozygosity

scientific article published on 01 October 2000

Success rate, efficacy, and safety/tolerability of overnight switching from immediate- to extended-release pramipexole in advanced Parkinson's disease

scientific article published on 31 July 2012

Successful outcome of progressive multifocal leukoencephalopathy with cytarabine and interferon ⬇️

scientific article published on April 1, 1993

Summary of GIGYF2 studies in Parkinson's disease: the burden of proof

scientific article published on 10 November 2009

Summary of the recommendations of the EFNS/MDS-ES review on therapeutic management of Parkinson's disease.

scientific article published on January 2013

Systemic PTEN-Akt1-mTOR pathway activity in patients with normal tension glaucoma and ocular hypertension: A case series

scientific article published on 9 May 2017

Systemic exosomal siRNA delivery reduced alpha-synuclein aggregates in brains of transgenic mice

scientific article

TCH346 as a neuroprotective drug in Parkinson's disease: a double-blind, randomised, controlled trial

scientific article

Targeting Mitochondria for Neuroprotection in Parkinson's Disease ⬇️

scientific article published on May 1, 2012

Targeting mitochondria for neuroprotection in Parkinson disease

scientific article published in May 2014

Test for LRRK2 mutations in patients with Parkinson's disease.

scientific article

The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.

scientific article published on December 1995

The Cytomegalovirus protein pUL37×1 targets mitochondria to mediate neuroprotection

scientific article published on 26 August 2016

The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.

scientific article

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice

scientific article published on October 2017

The biochemical basis of interactions between Glucocerebrosidase and alpha-synuclein in GBA1 mutation carriers

scientific article published on 22 January 2020

The burden of non-motor symptoms in Parkinson's disease using a self-completed non-motor questionnaire: a simple grading system

scientific article

The clinical relevance of levodopa toxicity in the treatment of Parkinson's disease

scientific article published in January 2008

The genetics of Parkinson's disease

scientific article published on 20 May 2015

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

scientific article

The importance of LRRK2 mutations in Parkinson disease

scientific article

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

scientific article published on 01 August 1998

The management of Parkinson’s disease – what is new? ⬇️

scientific article published on 01 March 2011

The measurement and importance of non-motor symptoms in Parkinson disease

scientific article published on 21 July 2014

The metric properties of a novel non-motor symptoms scale for Parkinson's disease: Results from an international pilot study

scientific article published in October 2007

The mitochondrial myopathies. Defects of the mitochondrial respiratory chain and oxidative phosphorylation system

scientific article published on 01 January 1987

The molecular pathology of human respiratory chain defects

scientific article published on January 1991

The molecular pathology of respiratory-chain dysfunction in human mitochondrial myopathies

scientific article published on 01 July 1990

The nondeclaration of nonmotor symptoms of Parkinson's disease to health care professionals: an international study using the nonmotor symptoms questionnaire

scientific article published in April 2010

The role of glucocerebrosidase in Parkinson disease pathogenesis

scientific article published on 31 January 2018

The role of the alpha -synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom ⬇️

scientific article published on September 1, 1998

The scientific and clinical basis for future therapies in Parkinson's disease

scientific article published on 01 April 2008

The timing of deep brain stimulation for Parkinson disease in the UK from 1997 to 2012.

scientific article published on October 2015

Therapeutic prospects for Parkinson disease

scientific article published on September 2013

Timing of deep brain stimulation in Parkinson disease: a need for reappraisal?

scientific article

Timing of treatment initiation in Parkinson's disease: a need for reappraisal?

scientific article

Timing the initiation of treatment in Parkinson's disease

scientific article published in June 2008

Treatment options in the modern management of Parkinson disease

scientific article published on August 2007

Two pregnant women with vomiting and fits ⬇️

scientific article published on 01 December 1997

Unexpected findings of study of selegiline have not been treated with caution its authors advised ⬇️

scientific article published on August 9, 1997

Uniting Chinese across Asia: the LRRK2 Gly2385Arg risk variant

scientific article

Update of the Human MitBASE database.

scientific article published on January 1999

Use of general practitioner computerised records to create a population based twin sample: pilot study based on Parkinson's disease ⬇️

scientific article published on December 6, 1997

Visual short-term memory deficits associated with GBA mutation and Parkinson's disease

scientific article

Why have we failed to achieve neuroprotection in Parkinson's disease?

scientific article published on December 2008

Wilson disease

scientific article published on 01 January 2002

α-Synuclein and mitochondrial dysfunction in Parkinson's disease

scientific article published on 30 January 2013

α-Synuclein structural features inhibit harmful polyunsaturated fatty acid oxidation, suggesting roles in neuroprotection

scientific article

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