HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

Pascal Reynier Selected Research

Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)

1/2015Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
10/2009OPA1-associated disorders: phenotypes and pathophysiology.
7/2009Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
1/2009OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.
6/2008Hereditary optic neuropathies share a common mitochondrial coupling defect.
2/2008Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
5/2007Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
6/2003Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!


Choose Username:
Email:
Password:
Verify Password:


Pascal Reynier Research Topics

Disease

8Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
01/2015 - 06/2003
8Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
01/2012 - 09/2002
6Optic Nerve Diseases (Optic Neuropathy)
11/2015 - 02/2008
6Neoplasms (Cancer)
09/2012 - 10/2003
6Deafness (Deaf Mutism)
10/2009 - 12/2003
4Mitochondrial Diseases (Mitochondrial Disease)
10/2013 - 09/2002
2Acute Intermittent Porphyria (Porphyria, Acute)
09/2015 - 06/2014
2Mitochondrial Myopathies (Mitochondrial Myopathy)
06/2012 - 02/2008
2Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2011 - 04/2009
2Ataxia (Dyssynergia)
02/2008 - 02/2008
2Optic Atrophy
02/2008 - 12/2003
2Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
02/2008 - 02/2008
2Papillary Carcinoma
06/2005 - 03/2004
1Metabolic Diseases (Metabolic Disease)
09/2015
1Open-Angle Glaucoma (Glaucoma, Open Angle)
07/2015
1Neurodegenerative Diseases (Neurodegenerative Disease)
01/2015
1Pneumonia (Pneumonitis)
09/2014
1Fat Embolism
09/2014
1Genetic Predisposition to Disease (Genetic Predisposition)
03/2013
1Parkinson Disease (Parkinson's Disease)
03/2013
1Rare Diseases (Rare Disease)
01/2013
1Retinal Dystrophies
01/2013
1Retinitis Pigmentosa (Pigmentary Retinopathy)
01/2013
1Glioma (Gliomas)
09/2012
1Lactic Acidosis
06/2012
1Stroke (Strokes)
06/2012
1Peripheral Nervous System Diseases (PNS Diseases)
05/2011
1Tuberculosis (Tuberculoses)
03/2010
1Osteosarcoma (Osteogenic Sarcoma)
08/2009
1Cataract (Cataracts)
06/2008
1Polyneuropathies (Polyneuropathy)
02/2008
1Ophthalmoplegia (External Ophthalmoplegia)
02/2008
1Sensorineural Hearing Loss
11/2007
1Hearing Loss (Hearing Impairment)
11/2007
1Muscular Diseases (Myopathy)
02/2007
1Carcinoma (Carcinomatosis)
06/2005
1Adenoma (Adenomas)
03/2004
1Oxyphilic Adenoma (Oncocytoma)
10/2003
1Nervous System Diseases (Neurological Disorders)
09/2002
1Leigh Disease (Leigh's Disease)
09/2002

Drug/Important Bio-Agent (IBA)

15Mitochondrial DNA (mtDNA)IBA
10/2013 - 09/2002
4Dynamins (Dynamin)IBA
10/2009 - 06/2003
3Mitochondrial Proteins (Mitochondrial Protein)IBA
01/2012 - 12/2004
3Proteins (Proteins, Gene)IBA
01/2012 - 12/2004
3GTP Phosphohydrolases (GTPases)IBA
10/2009 - 06/2003
2Heme (Haem)IBA
09/2015 - 06/2014
2Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
09/2015 - 06/2014
2Optic atrophy 1IBA
01/2015 - 12/2003
2Reactive Oxygen Species (Oxygen Radicals)IBA
09/2012 - 06/2005
2Electron Transport Complex IV (Cytochrome c Oxidase)IBA
02/2008 - 02/2008
1OxidoreductasesIBA
11/2015
1ubiquinolIBA
11/2015
1betaglycan (TGFBR3)IBA
07/2015
1resveratrolIBA
01/2015
1oil red OIBA
09/2014
1OF 743IBA
10/2013
1EnzymesIBA
03/2013
1IonsIBA
01/2013
1Retinaldehyde (Retinal)IBA
01/2013
1Glucose (Dextrose)FDA LinkGeneric
09/2012
1Pyruvic Acid (Pyruvate)IBA
09/2012
1ATP Translocases Mitochondrial ADPIBA
06/2011
1Type 2A Charcot-Marie-Tooth diseaseIBA
05/2011
1Membrane Proteins (Integral Membrane Proteins)IBA
05/2011
1GDAP proteinIBA
01/2011
1Inherited Peripheral NeuropathyIBA
01/2011
1Staphylococcal Protein A (A, Protein)IBA
01/2011
1Ethambutol (Myambutol)FDA LinkGeneric
03/2010
1Adenosine Triphosphate (ATP)IBA
08/2009
1N-(2-chloroethyl)-N-nitrosoacetamideIBA
08/2009
1Mitochondrial complex I deficiencyIBA
04/2009
1DNA (Deoxyribonucleic Acid)IBA
01/2009
112S ribosomal RNAIBA
11/2007
1Ser Transfer RNAIBA
11/2007
1Leu Transfer RNAIBA
11/2007
1X-linked Myotubular myopathyIBA
02/2007
1myotubularinIBA
02/2007
1Auditory neuropathyIBA
12/2005
1Complementary DNA (cDNA)IBA
06/2005
1alpha Catenin (alpha E-Catenin)IBA
06/2005
1AnticodonIBA
04/2005
1Asn Transfer RNAIBA
04/2005
1A-factor (Streptomyces)IBA
04/2005
1Carbon MonoxideIBA
12/2004
1Differentiation AntigensIBA
03/2004
1Thyrotropin Receptors (Thyrotropin Receptor)IBA
03/2004
1mitochondrial transcription factor AIBA
10/2003
1Nuclear Respiratory Factor 1IBA
10/2003