Results 111 to 120 of about 9,186 (248)

Outcomes of Acute Invasive Fungal Rhinosinusitis Patients Treated with Retrobulbar Amphotericin B Injections versus Orbital Exenteration

International Forum of Allergy &Rhinology, Volume 15, Issue 7, Page 744-747, July 2025.
Jakob L. Fischer, Nikitha Kosaraju, Katherine M. Lucarelli, Christine R. Wells, Connie M. Sears, Reem Karmouta, Ashley S. Shirriff, Maxwell Weng, Jeffrey D. Suh, Jivianne T. Lee, Daniel M. Beswick, Daniel B. Rootman, Marilene B. Wang   +12 more
wiley   +1 more source

Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions [PDF]

, 2016
Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated in a broad collection of conditions, including aging, neurodegeneration, and cancer.
A Bender, C Barthélémy, CT Moraes, CT Moraes, DC Wallace, DW Dong, Ea Schon, EJ Brierley, G Campbell, J Damas, J Damas, J Villarroya, J Wanagat, JB Stewart, JP Grady, K Khrapko, K Maniura-Weber, KJ Krishnan, L He, L Van Haute, L-JJC Wong, LC Greaves, M Elstner, M Sciacco, NF Cariello, NG Gokey, NR Phillips, NZ Lax, P Manoj, PF Chinnery, RW Taylor, S DiMauro, SD Taylor, SSL Chan, V Nesbitt, X Guo, Y Kraytsberg, Y Tang, Z Cao   +38 more
core   +1 more source

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large‐scale deletions or point mutations

EMBO Molecular Medicine, 2014
We designed and engineered mitochondrially targeted obligate heterodimeric zinc finger nucleases (mtZFNs) for site‐specific elimination of pathogenic human mitochondrial DNA (mtDNA).
Payam A Gammage, Joanna Rorbach, Anna I Vincent, Edward J Rebar, Michal Minczuk   +4 more
doaj   +1 more source

Mechanisms and effects of mitochondrial DNA instability and copy number manipulation [PDF]

, 2011
Defects in mitochondrial DNA (mtDNA) maintenance cause a range of human diseases, including autosomal dominant progressive external ophthalmoplegia (adPEO). This study aimed to clarify the molecular background of adPEO. We discovered that deoxynucleoside
Ylikallio, Emil
core  

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease [PDF]

, 2016
INTRODUCTION: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features.
Bhattacharya, K, Christodoulou, J, Clark, D, Ellaway, C, Farrar, M, Menezes, MP, Ouvrier, R, Pitt, M, Rahman, S, Ryan, MM, Sampaio, H, Thorburn, DR, Ware, TL, Wedatilake, Y   +13 more
core   +1 more source

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 [PDF]

, 2019
Objective : We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7).
Anheim, M, Baets, J, Banneau, G, Bassi, MT, Brice, A, Charles, P, Coarelli, G, D'Angelo, MG, D'Hooghe, M, Davoine, CS, De Bleecker, Jan, De Jonghe, P, Deconinck, T, Durr, A, Duyckaerts, C, Ewenczyk, C, Fontaine, B, Hamer, EG, Kamm, C, Klockgether, T, Klopstock, T, Kurzwelly, D, Martinuzzi, A, Masrori, P, Migeotte, I, Mochel, F, Monin, ML, Ollagnon-Roman, E, Papin, M, Schule, R, Schöls, L, Seilhean, D, Stevanin, G, Synofzik, M, Tezenas du Montcel, S, van de Warrenburg, BPC   +35 more
core   +1 more source

Mitochondrial neurogastrointestinal encephalopathy: a case report

The Egyptian Journal of Radiology and Nuclear Medicine
Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disease associated with alterations in mitochondrial DNA (mtDNA). The typical age of onset of MNGIE is between the first and second decade of life.
Ghazaleh Jamalipour Soufi, Ali Hekmatnia, Farzaneh Hekmatnia, Andrew Parviz Zarei, Farshad Riahi, Shamim Shafieyoon, Sara Azizollahi   +6 more
doaj   +1 more source

Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy [PDF]

, 2015
Exercise intolerance due to impaired oxidative metabolism is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still uncertain whether L-carnitine supplementation is beneficial for patients with MM.
Bravo, Daniela Manzoli, Gimenes, Ana Cristina Oliveira, Mello, Marco Tulio de, Neder, Jose Alberto, Nery, Luiz Eduardo, Nápolis, Lara Maris, Oliveira, Acary Souza Bulle   +6 more
core   +2 more sources

OPA1 analysis in an international series of probands with bilateral optic atrophy [PDF]

, 2017
Purpose To determine the molecular genetic cause in previously unreported probands with optic atrophy from the United Kingdom, Czech Republic and Canada.
Adzhubei, Alexander, Almind, Amati-Bonneau, Amati-Bonneau, Anikster, Barbet, Baris, Bertholet, Brunak, Calabrese, Capriotti, Carelli, Carelli, Chen, Cho, Choi, Delettre, Delettre, Desmet, Di Tommaso, Dunnen, Ferraris, Ferre, Ferre, Fuhrmann, Gallus, Hudson, Ke, Kerrison, Kim, Kjer, Kumar, Leruez, Li, Liskova, Lunkes, Lyle, Manners, Marchbank, Murton, Olichon, Pesch, Puomila, Reese, Reynier, Russo, Rönnbäck, Schimpf, Schimpf, Schwarz, Thiselton, Toomes, Votruba, Votruba, Yeo, Yu-Wai-Man, Yu-Wai-Man, Yu-Wai-Man, Zanna   +59 more
core   +1 more source

Chronic progressive external ophthalmoplegia [PDF]

, 1978
Contains fulltext : mmubn000001_025230352.pdf (Publisher’s version ) (Open Access)
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