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2000 8
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577 results

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Page 1
Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Chinnery PF. Yu-Wai-Man P, et al. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301353 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. ...
CLINICAL CHARACTERISTICS: Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacut …
Azacitidine and Venetoclax in Previously Untreated Acute Myeloid Leukemia.
DiNardo CD, Jonas BA, Pullarkat V, Thirman MJ, Garcia JS, Wei AH, Konopleva M, Döhner H, Letai A, Fenaux P, Koller E, Havelange V, Leber B, Esteve J, Wang J, Pejsa V, Hájek R, Porkka K, Illés Á, Lavie D, Lemoli RM, Yamamoto K, Yoon SS, Jang JH, Yeh SP, Turgut M, Hong WJ, Zhou Y, Potluri J, Pratz KW. DiNardo CD, et al. N Engl J Med. 2020 Aug 13;383(7):617-629. doi: 10.1056/NEJMoa2012971. N Engl J Med. 2020. PMID: 32786187 Clinical Trial.
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular myopathy [XLMTM]; and diseases of the central nervous system, including Alzheimer's disease, Parkinson's disease, Canavan disease, aromatic l- …
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular my …
Toxic optic neuropathies: an updated review.
Grzybowski A, Zülsdorff M, Wilhelm H, Tonagel F. Grzybowski A, et al. Acta Ophthalmol. 2015 Aug;93(5):402-410. doi: 10.1111/aos.12515. Epub 2014 Aug 27. Acta Ophthalmol. 2015. PMID: 25159832 Free article. Review.
A similar clinical picture may also be caused by nutritional deficits, including B vitamins, folic acid and proteins with sulphur-containing amino acids. This review summarizes the present knowledge on disease-causing factors, clinical presentation, diagnostics and treatme …
A similar clinical picture may also be caused by nutritional deficits, including B vitamins, folic acid and proteins with sulphur-con …
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group. Yu-Wai-Man P, et al. Cell Rep Med. 2024 Mar 19;5(3):101437. doi: 10.1016/j.xcrm.2024.101437. Epub 2024 Feb 29. Cell Rep Med. 2024. PMID: 38428428 Free PMC article. Clinical Trial.
Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to rapid and severe bilateral vision loss. ...
Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to rapid and severe bilateral vision loss. ...
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Newman NJ, Yu-Wai-Man P, Subramanian PS, Moster ML, Wang AG, Donahue SP, Leroy BP, Carelli V, Biousse V, Vignal-Clermont C, Sergott RC, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Bazin F, Roux M, Cox ED, Taiel M, Sahel JA; LHON REFLECT Study Group. Newman NJ, et al. Brain. 2023 Apr 19;146(4):1328-1341. doi: 10.1093/brain/awac421. Brain. 2023. PMID: 36350566 Free PMC article. Clinical Trial.
Leber hereditary optic neuropathy (LHON) is an important example of mitochondrial blindness with the m.11778G>A mutation in the MT-ND4 gene being the most common disease-causing mtDNA variant worldwide. ...
Leber hereditary optic neuropathy (LHON) is an important example of mitochondrial blindness with the m.11778G>A mutation in the MT …
Initial Invasive or Conservative Strategy for Stable Coronary Disease.
Maron DJ, Hochman JS, Reynolds HR, Bangalore S, O'Brien SM, Boden WE, Chaitman BR, Senior R, López-Sendón J, Alexander KP, Lopes RD, Shaw LJ, Berger JS, Newman JD, Sidhu MS, Goodman SG, Ruzyllo W, Gosselin G, Maggioni AP, White HD, Bhargava B, Min JK, Mancini GBJ, Berman DS, Picard MH, Kwong RY, Ali ZA, Mark DB, Spertus JA, Krishnan MN, Elghamaz A, Moorthy N, Hueb WA, Demkow M, Mavromatis K, Bockeria O, Peteiro J, Miller TD, Szwed H, Doerr R, Keltai M, Selvanayagam JB, Steg PG, Held C, Kohsaka S, Mavromichalis S, Kirby R, Jeffries NO, Harrell FE Jr, Rockhold FW, Broderick S, Ferguson TB Jr, Williams DO, Harrington RA, Stone GW, Rosenberg Y; ISCHEMIA Research Group. Maron DJ, et al. N Engl J Med. 2020 Apr 9;382(15):1395-1407. doi: 10.1056/NEJMoa1915922. Epub 2020 Mar 30. N Engl J Med. 2020. PMID: 32227755 Free PMC article. Clinical Trial.
Mitochondrial biogenesis: pharmacological approaches.
Valero T. Valero T. Curr Pharm Des. 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. Curr Pharm Des. 2014. PMID: 24606795
There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episode …
There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayr …
[Cholangiocarcinomas].
Schöning W, Haber PK, Pratschke J. Schöning W, et al. Chirurgie (Heidelb). 2025 Jan;96(1):77-86. doi: 10.1007/s00104-024-02200-z. Epub 2024 Dec 10. Chirurgie (Heidelb). 2025. PMID: 39658583 Review. German.
[Hepatopulmonary interactions].
Fuhrmann V, Tariparast P. Fuhrmann V, et al. Med Klin Intensivmed Notfmed. 2018 Sep;113(6):464-469. doi: 10.1007/s00063-018-0473-3. Epub 2018 Aug 6. Med Klin Intensivmed Notfmed. 2018. PMID: 30083871 Review. German.
577 results