Results 91 to 100 of about 5,286 (150)

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. [PDF]

Mitochondrion, 2020
Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK.   +8 more
europepmc   +1 more source

<i>MT-ATP6</i> variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review. [PDF]

J Neuromuscul Dis
Lessard LE, Bourque DK, Bourque PJ, Lochmüller H, Machado J, Del Gobbo GF, Marshall AE, Smith IC, Care4Rare Canada Consortium, Boycott KM, Warman-Chardon J, Breiner A.   +11 more
europepmc   +1 more source

Cerebellar stroke-like lesions in Leigh syndrome due to the variant m.8993T>C in MT-ATP6. [PDF]

eNeurologicalSci, 2020
Finsterer J.
europepmc   +1 more source

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8. [PDF]

Neurology
Carli S, Levarlet A, Diodato D, Bertini ES, Martinelli D, Malandrini A, Lopergolo D, Gallus GN, Ganetzky RD, La Morgia C, Carelli V, Primiano G, Domínguez-González C, Serrano-Lorenzo P, Martín MA, Ardissone A, Lamperti C, Nicoletta V, Klopstock T, Distelmaier F, Zeng L, Büchner B, Mancuso M, Schuelke M, Prigione A, Garone C.   +25 more
europepmc   +1 more source

Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature. [PDF]

Mol Syndromol
Akar HT, Sayar E, Sarıtaş Nakip Ö, Sönmez E, Özkan MB, Olgaç A.   +5 more
europepmc   +1 more source

Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Whole-Genome Sequencing: A Case Report. [PDF]

Korean J Ophthalmol
Choi J, Hwang S, Jang JH, Kim SJ.
europepmc   +1 more source

Analysis of the associations between missense substitutions in the human MT-ATP6 gene

Bioinformatics of Genome Regulation and Structure/ Systems Biology, 2020
openaire   +1 more source

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. [PDF]

Hum Mutat, 2019
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ.   +6 more
europepmc   +1 more source

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. [PDF]

Haematologica, 2018
Berhe S, Heeney MM, Campagna DR, Thompson JF, White EJ, Ross T, Peake RWA, Hanrahan JD, Rodriguez V, Renaud DL, Patnaik MS, Chang E, Bottomley SS, Fleming MD.   +13 more
europepmc   +1 more source

Association of mitochondrial variants A4336G of the tRNAGln gene and 8701G/A of the MT-ATP6 gene in Mexicans Mestizos with Parkinson disease

Folia Neuropathologica, 2019
Silvia García, Luz López-Hernández, Luis Dávila-Maldonado, Carlos Cuevas-García, Martha Gallegos-Arreola, Sofía Alcaraz-Estrada, Leticia Cortes-Espinosa, Carlos Flores, Patricia Canto, Ramón Vázquez   +9 more
doaj   +1 more source