(Q30887594)

27 June 2017

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title

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation (English)

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27 June 2017

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Atsuko Tomita-Katsumoto

object named as

Atsuko Tomita-Katsumoto

7

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Yoshinori Tsurusaki

object named as

Yoshinori Tsurusaki

13

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Hirotomo Saitsu

object named as

Hirotomo Saitsu

15

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author name string

Misako Kunii

1

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27 June 2017

Hiroshi Doi

2

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27 June 2017

Yuichi Higashiyama

3

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27 June 2017

Chiharu Kugimoto

4

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27 June 2017

Naohisa Ueda

5

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27 June 2017

Junichi Hirata

6

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27 June 2017

Mari Kashikura-Kojima

8

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27 June 2017

Shun Kubota

9

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27 June 2017

Midori Taniguchi

10

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27 June 2017

Kei Murayama

11

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27 June 2017

Mitsuko Nakashima

12

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27 June 2017

Noriko Miyake

14

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27 June 2017

Naomichi Matsumoto

16

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27 June 2017

Fumiaki Tanaka

17

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27 June 2017

publication date

5 February 2015

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Journal of Human Genetics

27 June 2017

published in

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27 June 2017

volume

60

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27 June 2017

issue

4

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27 June 2017

page(s)

187-191

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On the mechanism of electron transfer in complex iii of the electron transfer chain

27 June 2017

cites work

1 reference

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Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

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Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

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Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation

21 January 2018

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Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

21 January 2018

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.7

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2015.7

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.7

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.7

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.7

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.7

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

21 January 2018

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Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome

21 January 2018

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency

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21 January 2018

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Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia

21 January 2018

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Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome

21 January 2018

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21 January 2018

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Truncal ataxia from infarction involving the inferior olivary nucleus

21 January 2018

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Respiratory-chain diseases related to complex III deficiency

21 January 2018

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Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

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Clinical and biochemical features associated with BCS1L mutation.

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Evaluation of brain perfusion SPECT using an easy Z-score imaging system (eZIS) as an adjunct to early-diagnosis of neurodegenerative diseases

21 January 2018

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A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25652355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25652355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2015.7

1 reference

27 June 2017

1 reference