Mitochondrial diseases

Results: 104



#Item
91Mitochondrial diseases / Chronic progressive external ophthalmoplegia / POLG / Spinocerebellar ataxia / Ataxia / Channelopathy / Neurological disorders / Syndromes / ICD-10 Chapter VI: Diseases of the nervous system / Health / Genetic genealogy / Medical genetics

Microsoft Word - 2POLG rel do patientsheet final.doc

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Source URL: path.upmc.edu

Language: English - Date: 2013-06-28 10:41:47
92Gerontology / Mitochondrial diseases / Neurological disorders / DNA / Mitochondrion / Mitochondrial DNA / Reactive oxygen species / DNA repair / Senescence / Biology / Genetics / Aging

Acta Otolaryngol 2004; Suppl 552: 16/24 Age-related Hearing Loss and its Association with Reactive Oxygen Species and Mitochondrial DNA damage* MICHAEL D. SEIDMAN1, NADIR AHMAD1, DIPA JOSHI2, JAKE SEIDMAN3, SUJATHA THA

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Source URL: www.visalus.com

Language: English - Date: 2013-07-10 19:21:31
93Organelles / Mitochondrial genetics / DNA / Mitochondrion / Mitochondrial DNA / Genetic disorder / Hyperbaric medicine / Cell / Mutation / Biology / Genetics / Mitochondrial diseases

POSITIVE EFFECTS OF HYPERBARIC OXYGENATION IN CERTAIN MITROCHONDRIAL CYTOPATHIES “All life takes place on a cellular level. This is the first scientific proposal that hyperbaric

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Source URL: www.oceanhbo.com

Language: English - Date: 2012-11-28 22:04:15
94DNA / Mitochondrial diseases / Programmed cell death / Transcription factors / Mitochondrial DNA / Skeletal striated muscle / Creatine kinase / Chronic progressive external ophthalmoplegia / Mitochondrion / Biology / Anatomy / Muscular system

Exploring the gonad transcriptome of two extreme male pigs with RNA-seq

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Source URL: www.ncbi.nlm.nih.gov

Language: English
95Deafness / DNA / Mitochondrial diseases / Channelopathy / Nonsyndromic deafness / MT-RNR1 / Sensorineural hearing loss / Uyghur people / GJB2 / Genetics / Biology / Philosophy of biology

Associations between GJB2, Mitochondrial 12S rRNA, SLC26A4 Mutations, and Hearing Loss among Three Ethnicities

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Source URL: www.ncbi.nlm.nih.gov

Language: English
96Rare diseases / Myopathy / Inborn errors of carbohydrate metabolism / Myalgia / Mitochondrial myopathy / Encephalopathy / Ocular myasthenia / Cardiomyopathy / Muscle / Anatomy / Health / Mitochondrial diseases

Letter to the Editor Complex-I defect with minimal manifestations

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Source URL: www.ncbi.nlm.nih.gov

Language: English
97Muscular dystrophy / Ptosis / Chronic progressive external ophthalmoplegia / Autoimmune diseases / Motor neurone disease / Oculopharyngeal muscular dystrophy / Amyotrophic lateral sclerosis / Eyelid / Dysphagia / Health / Rare diseases / Mitochondrial diseases

Oculopharyngeal muscular dystrophy (OPMD) The term muscular dystrophy is used to cover a wide range of conditions which have in common progressive muscle weakness due to an inherited genetic defect (mutation). There is huge variation in

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Source URL: www.muscular-dystrophy.org

Language: English - Date: 2010-05-10 07:18:09
98Deafness / Cytogenetics / Syndromes / Mitochondrial diseases / X-linked recessive inheritance / Sex linkage / Nonsyndromic deafness / Usher syndrome / Sensorineural hearing loss / Biology / Genetics / Philosophy of biology

Understanding the Genetics of Deafness

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Source URL: hearing.harvard.edu

Language: English - Date: 2004-04-29 11:54:34
99DNA / Mitochondrial diseases / Chronic progressive external ophthalmoplegia / Epilepsy / Mitochondrial DNA / Mitochondrion / POLG / DNA polymerase / Genetics / Biology / Health

ACNRND11:Layout[removed]

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Source URL: www.acnr.co.uk

Language: English - Date: 2013-03-13 19:03:36
100Mutation / Rare diseases / DNA / Molecular biology / BRCA1 / Granular corneal dystrophy type II / Mitochondrial DNA / Endothelin receptor type B / Point mutation / Biology / Genetics / Medicine

Letters to the Editor Am. J. Hum. Genet. 62:713–715, 1998

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Source URL: www.ncbi.nlm.nih.gov

Language: English
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