Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.
about
Ramsay Hunt syndrome: to bury or to praiseInfant-onset progressive myoclonus epilepsyCNF1 Enhances Brain Energy Content and Counteracts Spontaneous Epileptiform Phenomena in Aged DBA/2J Mice.Epilepsy in a mitochondrial disorder.Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.Mitochondrial myopathies and encephalomyopathies.Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndromeClinical and laboratory findings in referrals for mitochondrial DNA analysis.Neuropathology in Drosophila mutants with increased seizure susceptibility.Epilepsy in adults with mitochondrial disease: A cohort study.Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome)Kearns Sayre Syndrome--case report with review of literature.Mitochondrial diseases and epilepsy.Activity rating scales in adult muscle disease: what do they actually measure?Oxidative stress in inherited mitochondrial diseases.Fibrous dysplasia in a child with mitochondrial A8344G mutation.Progress in mapping human epilepsy genes.Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss.Mitochondrial genetics: principles and practice.Hippocampal antioxidative system in mesial temporal lobe epilepsy.Defective brain energy metabolism shown by in vivo 31P MR spectroscopy in 28 patients with mitochondrial cytopathies.Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis.Reduced brain stem excitability in mitochondrial myopathy: evidence for early detection with blink reflex habituation studies.Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies.Audiological assessment in patients with mitochondrial myopathy.Myoclonus epilepsy with ragged-red fibers: a clinical and electrophysiologic follow-up study on two sibling cases.
P2860
Q24514933-A44C1396-9804-404C-B88C-383C3AA0B1D2Q28333327-DFD9858F-7133-4421-B94A-078BCA072351Q30400926-50514775-B5C3-4AC2-99C6-5A36D2DB1B52Q33590168-08009997-0D4C-40B1-B588-B12AF056651EQ33672790-1D57A405-C212-41FE-8B10-43D0B5FE4FA9Q33732462-B0DE2EAF-B16E-4D07-AE1B-A6D5FEAAF110Q33785697-6D752016-E12A-4CDB-9D6A-040FFA3FF5D8Q34128925-9F5D5784-267E-4F22-8710-C4874ABCF737Q35194426-C34248A2-BF54-4576-AD4C-C839E6CFDEA2Q35196300-6C382D34-B283-4847-8B49-0AA62D8B9918Q35260216-8F2D2E2E-BD1B-4711-98B4-536C09DB948EQ36470506-B263DF47-A8B9-4007-8927-FD2A4A646332Q36533148-1612770C-1549-4A5F-AF10-7FC539E94D06Q36958556-CA369344-58AB-496A-9D64-DC643374B18AQ37974574-A5EEAF8F-8992-4316-B0B8-57B35D5869E3Q38040447-ED05837B-6FC5-444E-958A-FF197D66F558Q38152335-48C21111-AFA3-428F-87E2-5A9CEACF6B47Q38527423-B0874B58-BFC6-409F-ABAC-18E0E57D9DA3Q39943063-A212BC04-6A2F-4D68-98CE-0FE1B51F4A04Q40807685-02DC753D-9324-4811-B2D9-AEE847FBD1ADQ43024675-6309911D-A07A-4399-9273-0F711F89E5E8Q43146278-F34F7923-721D-401A-AFCD-14F4863FAC8AQ47981346-C23E4DAA-7078-4E96-81FE-3378A6196537Q48291356-DCB978CE-C05A-4759-B381-C651B9103652Q48338711-0D4CA896-8014-461D-8FD5-9AA3F757DE23Q48679931-DEEBE799-0C7A-474F-9D5F-A9B8B9138CBBQ48854588-0BDB25A7-632C-4392-A547-8889B85F938FQ48971174-B0458EF1-BF5E-48D0-8032-D95CC70DCBB4Q50499101-2F8BCA47-6BAF-44CD-ADF3-BFBA3C9A49CBQ50527875-20CFF2F4-2F50-474F-A9FD-75E2A94BEE99
P2860
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.
description
1989 nî lūn-bûn
@nan
1989 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Myoclonus epilepsy and ragged- ...... on emission tomographic study.
@ast
Myoclonus epilepsy and ragged- ...... on emission tomographic study.
@en
type
label
Myoclonus epilepsy and ragged- ...... on emission tomographic study.
@ast
Myoclonus epilepsy and ragged- ...... on emission tomographic study.
@en
prefLabel
Myoclonus epilepsy and ragged- ...... on emission tomographic study.
@ast
Myoclonus epilepsy and ragged- ...... on emission tomographic study.
@en
P2093
P356
P1433
P1476
Myoclonus epilepsy and ragged- ...... on emission tomographic study.
@en
P2093
Andermann F
Berkovic SF
Carpenter S
Shoubridge EA
P304
P356
10.1093/BRAIN/112.5.1231
P407
P478
112 ( Pt 5)
P577
1989-10-01T00:00:00Z