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Mitochondrial diseases

The Lancet (British edition), 2012-05, Vol.379 (9828), p.1825-1834

Schapira, Anthony HV, Prof

2012

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

JAMA neurology, 2020-04, Vol.77 (4), p.427

2020

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

Lancet neurology, 2009-05, Vol.8 (5), p.464-474

2009

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

The Lancet (British edition), 2014-08, Vol.384 (9942), p.545-555

2014

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Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

Annals of neurology, 2012-09, Vol.72 (3), p.455-463

2012

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

Human molecular genetics, 2010-12, Vol.19 (24), p.4861-4870

2010

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

JAMA neurology, 2015-02, Vol.72 (2), p.201

2015

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

Journal of neurochemistry, 2016-01, Vol.136 (2), p.388-402

2016

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

Brain (London, England : 1878), 2014-05, Vol.137 (5), p.1481-1495

2014

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Mitochondrial disease

The Lancet (British edition), 2006-07, Vol.368 (9529), p.70-82

SCHAPIRA, Anthony H. V

2006

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Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism

Nature communications, 2023-04, Vol.14 (1), p.1930-1930, Article 1930

2023

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Molecular and clinical prodrome of Parkinson disease: implications for treatment

Nature reviews. Neurology, 2010-06, Vol.6 (6), p.309-317

2010

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The PINK1-Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells

PloS one, 2021-11, Vol.16 (11), p.e0259903

2021

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

PloS one, 2009-03, Vol.4 (3), p.e4756-e4756

2009

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The relationship between glucocerebrosidase mutations and Parkinson disease

Journal of neurochemistry, 2016-10, Vol.139 (S1), p.77-90

2016

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

Annals of neurology, 2013-05, Vol.73 (5), p.565-575

2013

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

The Neuroscientist, 2018-10, Vol.24 (5), p.540-559

2018

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The role of glucocerebrosidase in Parkinson disease pathogenesis

The FEBS journal, 2018-10, Vol.285 (19), p.3591-3603

2018

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

Human molecular genetics, 2012-10, Vol.21 (19), p.4201-4213

2012

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

Lancet neurology, 2013-08, Vol.12 (8), p.747-755

2013

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

Movement disorders, 2006-07, Vol.21 (7), p.916-923

2006

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Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts

PloS one, 2010-09, Vol.5 (9), p.e12962-e12962

2010

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Hyposmia and cognitive impairment in Gaucher disease patients and carriers

Movement disorders, 2012-04, Vol.27 (4), p.526-532

2012

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GBA Variants and Parkinson Disease: Mechanisms and Treatments

Cells (Basel, Switzerland), 2022-04, Vol.11 (8), p.1261

2022

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

Journal of neurochemistry, 2009-08, Vol.110 (3), p.1005-1013

2009

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Mitochondrial diseases

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

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

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

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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

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

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

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

Mitochondrial disease

Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism

Molecular and clinical prodrome of Parkinson disease: implications for treatment

The PINK1-Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells

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

The relationship between glucocerebrosidase mutations and Parkinson disease

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

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

The role of glucocerebrosidase in Parkinson disease pathogenesis

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

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

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

Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

GBA Variants and Parkinson Disease: Mechanisms and Treatments

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

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