Zobrazeno 1 - 10 of 25 pro vyhledávání: '"D R, Johns"'
1
Sequence analysis of Hungarian LHON patients not carrying the common primary mutations
Autor: Rita Horvath, J. Horvath, Veronika Karcagi, Sámuel Komoly, D. R. Johns
We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c01b9e28fb4269ba9f7a408255b2491
http://doc.rero.ch/record/315793/files/10545_2004_Article_5095801.pdf
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2
Mitochondrial dysfunction and neuromuscular disease
Autor: R A, Nardin, D R, Johns
Publikováno v: Musclenerve. 24(2)
Mitochondrial diseases are a heterogeneous group of disorders with widely varying clinical features, due to defects in mitochondrial function. Involvement of both muscle and nerve is common in mitochondrial disease. In some cases, this involvement is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ab4b04f3510bcc46145505a6ca7924dc
https://pubmed.ncbi.nlm.nih.gov/11180201
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3
Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation
Autor: L, Sudarsky, G M, Plotkin, E L, Logigian, D R, Johns
Publikováno v: Movement disorders : official journal of the Movement Disorder Society. 14(3)
A variety of neurologic phenotypes have been described in patients with mitochondrial disorders. We report a 32-year-old man in whom dystonia was the salient and presenting feature of a mitochondrial DNA mutation. He presented at age 23 with writer's
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cf4104a076dab3dbef81bbde9a5a58d5
https://pubmed.ncbi.nlm.nih.gov/10348475
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4
Myotonia in colchicine myoneuropathy
Autor: S B, Rutkove, U, De Girolami, D C, Preston, R, Freeman, R A, Nardin, G K, Gouras, D R, Johns, E M, Raynor
Publikováno v: Musclenerve. 19(7)
Colchicine may induce a myoneuropathy in patients with renal insufficiency. To date, myotonia has not been described in this disorder. We recently studied 4 patients treated with routine doses of colchicine who, in the setting of renal insufficiency,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b3d2f894974c171a8018f07e251209f4
https://pubmed.ncbi.nlm.nih.gov/9533795
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6
MR of the brain in mitochondrial myopathy
Autor: S H, Wray, J M, Provenzale, D R, Johns, K R, Thulborn
Publikováno v: AJNR Am J Neuroradiol
PURPOSE: To determine the spectrum of MR findings in patients with mitochondrial myopathy and correlate them with central nervous system symptoms and signs. METHODS: We performed a prospective evaluation of the MR findings of eight patients with mito
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c810f6e709804604188c52466581e28c
https://pubmed.ncbi.nlm.nih.gov/7639148
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7
Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy
Autor: D R, Johns, M J, Neufeld, T R, Hedges
Publikováno v: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 14(3)
To investigate the potential role of mitochondrial DNA (mtDNA) mutations in the recent outbreak in Cuba of optic neuropathy and peripheral neuropathy (COPN).Historical features were reviewed and neuro-ophthalmologic examinations were performed on a s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f98fdf251e47a60561e1c83f8b54cf3d
https://pubmed.ncbi.nlm.nih.gov/7804416
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8
Cuban epidemic optic neuropathy. Mitochondrial DNA analysis
Autor: D R, Johns, A A, Sadun
Publikováno v: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 14(3)
To search for mitochondrial DNA (mtDNA) mutations previously associated with Leber's hereditary optic neuropathy (LHON) in patients with an optic neuropathy that appeared in epidemic form in Cuba.Twelve Cuban patients underwent a comprehensive neuro-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::22f9d414f1ba38b21e553c415da89a36
https://pubmed.ncbi.nlm.nih.gov/7804415
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9
Association of the 11778 mitochondrial DNA mutation and demyelinating disease
Autor: K M, Flanigan, D R, Johns
Publikováno v: Neurology. 43(12)
Leber's hereditary optic neuropathy is a maternally inherited disorder most commonly associated with a mitochondrial DNA mutation at nucleotide position 11778. We report four patients, including a man and a black woman, with the 11778 mutation, who h
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d180963fc1eedad2b74a8b8b71aa9ac6
https://pubmed.ncbi.nlm.nih.gov/8255489
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10
Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation
Autor: D R, Johns, K H, Smith, P J, Savino, N R, Miller
Publikováno v: Ophthalmology. 100(7)
Leber's hereditary optic neuropathy is associated with four known pathogenetic mutations of mitochondrial DNA (mtDNA) at nucleotide positions (np) 11778, 3460, 15257, and 14484.The authors collected clinical data from 12 visually symptomatic patients
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::583dfbaa8114d189728da9cbfc88598b
https://pubmed.ncbi.nlm.nih.gov/8321540
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