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1
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination
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Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination

Sato, R. ; Arai‐Ichinoi, N. ; Kikuchi, A. ; Matsuhashi, T. ; Numata‐Uematsu, Y. ; Uematsu, M. ; Fujii, Y. ; Murayama, K. ; Ohtake, A. ; Abe, T. ; Kure, S.

Clinical genetics, 2018-02, Vol.93 (2), p.242-247 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
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Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2

Kishita, Yoshihito ; Shimura, Masaru ; Kohda, Masakazu ; Fushimi, Takuya ; Nitta, Kazuhiro R. ; Yatsuka, Yukiko ; Hirose, Shinichi ; Ideguchi, Hiroshi ; Ohtake, Akira ; Murayama, Kei ; Okazaki, Yasushi

Human mutation, 2021-11, Vol.42 (11), p.1422-1428 [Periódico revisado por pares]

United States: Wiley Periodicals Inc

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3
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

McFarland, Robert ; Kirby, Denise M. ; Fowler, Kerry J. ; Ohtake, Akira ; Ryan, Michael T. ; Amor, David J. ; Fletcher, Janice M. ; Dixon, Joanne W. ; Collins, Felicity A. ; Turnbull, Douglass M. ; Taylor, Robert W. ; Thorburn, David R.

Annals of neurology, 2004-01, Vol.55 (1), p.58-64 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
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A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency

Yatsuka, Yukiko ; Kishita, Yoshihito ; Formosa, Luke E. ; Shimura, Masaru ; Nozaki, Fumihito ; Fujii, Tatsuya ; Nitta, Kazuhiro R. ; Ohtake, Akira ; Murayama, Kei ; Ryan, Michael T. ; Okazaki, Yasushi

Clinical genetics, 2020-08, Vol.98 (2), p.155-165 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease
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Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease

Kirby, Denise M. ; Boneh, Avihu ; Chow, C. W. ; Ohtake, Akira ; Ryan, Michael T. ; Thyagarajan, Dominic ; Thorburn, David R.

Annals of neurology, 2003-10, Vol.54 (4), p.473-478 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome
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Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome

Yamazaki, Taro ; Murayama, Kei ; Compton, Alison G ; Sugiana, Canny ; Harashima, Hiroko ; Amemiya, Shin ; Ajima, Masami ; Tsuruoka, Tomoko ; Fujinami, Ayako ; Kawachi, Emi ; Kurashige, Yoshiko ; Matsushita, Kenshi ; Wakiguchi, Hiroshi ; Mori, Masato ; Iwasa, Hiroyasu ; Okazaki, Yasushi ; Thorburn, David R ; Ohtake, Akira

Pediatrics international, 2014-04, Vol.56 (2), p.180-187 [Periódico revisado por pares]

Australia: Blackwell Publishing Ltd

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7
P16.08: Dangerous methotrexate‐indispensable abdominal pregnancies in a developed country
P16.08: Dangerous methotrexate‐indispensable abdominal pregnancies in a developed country
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P16.08: Dangerous methotrexate‐indispensable abdominal pregnancies in a developed country

Hoshino, T. ; Yamazoe, S. ; Usuki, A. ; Matsumoto, Y. ; Hino, M. ; Hayashi, N. ; Miyamoto, T. ; Oyama, R. ; Uematsu, K. ; Tomita, H. ; Ohtake, N. ; Miyamoto, K. ; Aoki, T. ; Yoshioka, S.

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.173-174 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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8
P16.06: Dangerous fetal heartbeat‐positive abdominal pregnancies in a developed country
P16.06: Dangerous fetal heartbeat‐positive abdominal pregnancies in a developed country
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P16.06: Dangerous fetal heartbeat‐positive abdominal pregnancies in a developed country

Hoshino, T. ; Yamazoe, S. ; Usuki, A. ; Matsumoto, Y. ; Hino, M. ; Hayashi, N. ; Miyamoto, T. ; Oyama, R. ; Uematsu, K. ; Tomita, H. ; Ohtake, N. ; Miyamoto, K. ; Aoki, T. ; Yoshioka, S.

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.173-173 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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9
A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's disease
A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's disease
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A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's disease

Ishikawa, Atsushi ; Piao, Yue-Shan ; Miyashita, Akinori ; Kuwano, Ryozo ; Onodera, Osamu ; Ohtake, Hiroaki ; Suzuki, Masahiro ; Nishizawa, Masatoyo ; Takahashi, Hitoshi

Annals of neurology, 2005-03, Vol.57 (3), p.429-434 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
P20.04: Ultrasonographic guidance in hysteroscopic resection of Caesarean scar pregnancy at six weeks of gestation with laminaria cervical dilatation
P20.04: Ultrasonographic guidance in hysteroscopic resection of Caesarean scar pregnancy at six weeks of gestation with laminaria cervical dilatation
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P20.04: Ultrasonographic guidance in hysteroscopic resection of Caesarean scar pregnancy at six weeks of gestation with laminaria cervical dilatation

Hoshino, T. ; Miyamoto, T. ; Usuki, A. ; Matsumoto, Y. ; Hayashi, N. ; Hirao, A. ; Oyama, R. ; Ohtake, N. ; Kitamura, S. ; Suga, M. ; Miyamoto, K. ; Takaoka, A. ; Aoki, T. ; Imamura, Y. ; Kita, M.

Ultrasound in obstetrics & gynecology, 2014-09, Vol.44 (S1), p.305-305 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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