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1
Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm
Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm
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Characterization of the Mitochondrial Genetic Landscape in Abdominal Aortic Aneurysm

Vats, Sakshi ; Sundquist, Kristina ; Li, Yanni ; Wang, Xiao ; Hong, Mun-Gwan ; Sundquist, Jan ; Zarrouk, Moncef ; Gottsäter, Anders ; Memon, Ashfaque A

Journal of the American Heart Association, 2023-04, Vol.12 (8), p.e029248-e029248 [Periódico revisado por pares]

England: John Wiley and Sons Inc

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2
POLG1 Mutations Associated With Progressive Encephalopathy in Childhood
POLG1 Mutations Associated With Progressive Encephalopathy in Childhood
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POLG1 Mutations Associated With Progressive Encephalopathy in Childhood

Kollberg, Gittan ; Moslemi, Ali-Reza ; Darin, Niklas ; Nennesmo, Inger ; Bjarnadottir, Ingibjörg ; Uvebrant, Paul ; Holme, Elisabeth ; Melberg, Atle ; Tulinius, Már ; Oldfors, Anders

Journal of neuropathology and experimental neurology, 2006-08, Vol.65 (8), p.758-768 [Periódico revisado por pares]

Hagerstown, MD: American Association of Neuropathologists, Inc

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3
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
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Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations

KOLLBERG, Gittan ; JANSSON, Monica ; PEREZ-BERCOFF, Asa ; MELBERG, Atle ; LINDBERG, Christopher ; HOLME, Elisabeth ; MOSLEMI, Ali-Reza ; OLDFORS, Anders

European journal of human genetics : EJHG, 2005-04, Vol.13 (4), p.463-469 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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4
Novel mutations in the thymidine kinase 2 gene ( TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion
Novel mutations in the thymidine kinase 2 gene ( TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion
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Novel mutations in the thymidine kinase 2 gene ( TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

Tulinius, Már ; Moslemi, Ali-Reza ; Darin, Niklas ; Holme, Elisabeth ; Oldfors, Anders

Neuromuscular disorders : NMD, 2005-06, Vol.15 (6), p.412-415 [Periódico revisado por pares]

England: Elsevier B.V

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5
Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood
Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood
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Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood

Houshmand, Massoud ; Gardner, Ann ; Hällström, Tore ; Müntzing, Kristina ; Oldfors, Anders ; Holme, Elisabeth

Neuromuscular disorders : NMD, 2004-03, Vol.14 (3), p.195-201 [Periódico revisado por pares]

England: Elsevier B.V

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6
Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I
Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I
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Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I

Kollberg, Gittan ; Moslemi, Ali-Reza ; Lindberg, Christopher ; Holme, Elisabeth ; Oldfors, Anders

Journal of neuropathology and experimental neurology, 2005-02, Vol.64 (2), p.123-128 [Periódico revisado por pares]

Hagerstown, MD: American Association of Neuropathologists, Inc

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7
Two New Mutations in the MTATP6 Gene Associated with Leigh Syndrome
Two New Mutations in the MTATP6 Gene Associated with Leigh Syndrome
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Two New Mutations in the MTATP6 Gene Associated with Leigh Syndrome

Moslemi, A.-R. ; Darin, N. ; Tulinius, M. ; Oldfors, A. ; Holme, E.

Neuropediatrics, 2005-10, Vol.36 (5), p.314-318 [Periódico revisado por pares]

Stuttgart: Thieme

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8
Nanopore sequencing identifies a higher frequency and expanded spectrum of mitochondrial DNA deletion mutations in human aging
Nanopore sequencing identifies a higher frequency and expanded spectrum of mitochondrial DNA deletion mutations in human aging
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Nanopore sequencing identifies a higher frequency and expanded spectrum of mitochondrial DNA deletion mutations in human aging

Vandiver, Amy R ; Hoang, Austin N ; Herbst, Allen ; Lee, Cathy C ; Aiken, Judd M ; McKenzie, Debbie ; Teitell, Michael A ; Timp, Winston ; Wanagat, Jonathan

Aging Cell, 2023-06, Vol.22 (6)

eScholarship, University of California

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9
The 5'-phosphate enhances the DNA-binding and exonuclease activities of human mitochondrial genome maintenance exonuclease 1 (MGME1)
The 5'-phosphate enhances the DNA-binding and exonuclease activities of human mitochondrial genome maintenance exonuclease 1 (MGME1)
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The 5'-phosphate enhances the DNA-binding and exonuclease activities of human mitochondrial genome maintenance exonuclease 1 (MGME1)

Urrutia, Kathleen M ; Xu, Wenyan ; Zhao, Linlin

The Journal of biological chemistry, 2022-09, Vol.298 (9)

eScholarship, University of California

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10
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy
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Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy

Newman, Nancy J ; Yu-Wai-Man, Patrick ; Subramanian, Prem S ; Moster, Mark L ; Wang, An-Guor ; Donahue, Sean P ; Leroy, Bart P ; Carelli, Valerio ; Biousse, Valerie ; Vignal-Clermont, Catherine ; Sergott, Robert C ; Sadun, Alfredo A ; Rebolleda Fernández, Gema ; Chwalisz, Bart K ; Banik, Rudrani ; Bazin, Fabienne ; Roux, Michel ; Cox, Eric D ; Taiel, Magali ; Sahel, José-Alain ; Giulia, Amore ; Shweta, Anand ; Rudrani, Banik ; Piero, Barboni ; Valérie, Biousse ; Hayley, Boston ; Asma, Burale ; Michele, Carbonelli ; Valerio, Carelli ; Celia, Chen ; Hui-Chen, Cheng ; Steve, Cho ; Manuela, Contin ; Pietro, D’Agati ; DeBusk, Adam A ; Julie, De Zaeytijd ; Jannah, Dobbs ; Lindreth, DuBois ; Simona, Esposti ; Alcides, Fernandes Filho ; Elizabeth, Fortin ; Sapna, Gangaputra ; Deborah, Gibbs ; François, Girmens Jean ; Rabih, Hage ; Haller, Julia A ; Gad, Heilweil ; George Baker, Hubbard III ; Jeong-Min, Hwang ; Laia, Jaumendreu Urquijo ; Neringa, Jurkute ; Rustum, Karanjia ; Wahiba, Khemliche ; La Chiara, Morgia ; Maria, Massini ; Marc, Mathias ; Memon, Muhammad A ; Susan, Mohamed ; Muñoz Negrete, Francisco J ; Ghazala, O’Keefe ; Shriji, Patel ; Paula, Pecen ; Peragallo, Jason H ; Lise, Plaine ; Mary, Preston ; Gema, Rebolleda Fernández ; Martina, Romagnoli ; José-Alain, Sahel ; Melissa, SantaMaria ; Chuanbin, Sun ; Katy, Tai ; Heather, Tollis ; Irena, Tsui ; Tucker, William R ; Catherine, Vignal-Clermont ; An-Guor, Wang ; Saige, Wilkins ; Patrick, Yu-Wai-Man

Brain, 2023-04, Vol.146 (4), p.1328-1341

eScholarship, University of California

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