(Q44447455)

3 December 2017

title

A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia (English)

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3 December 2017

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4

Joseph Jankovic

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3 December 2017

Xandra O. Breakefield

3

object named as

Xandra O Breakefield

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3 December 2017

11

Mark A Tarnopolsky

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3 December 2017

7

Susan B Bressman

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3 December 2017

David K Simon

1

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3 December 2017

Jennifer Friedman

2

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3 December 2017

Mitchell F Brin

5

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3 December 2017

John Provias

6

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3 December 2017

Michael E Charness

8

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3 December 2017

Daniel Tarsy

9

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3 December 2017

Donald R Johns

10

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3 December 2017

publication date

17 May 2003

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3 December 2017

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3 December 2017

volume

4

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3 December 2017

issue

4

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3 December 2017

page(s)

199-205

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https://scigraph.springernature.com/pub.10.1007/s10048-003-0150-3

3 December 2017

exact match

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cites work

Epidemiology and treatment of mitochondrial disorders

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12 December 2020

Clinical and molecular genetics of primary dystonias

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12 December 2020

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

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12 December 2020

Disorders of movement in Leigh syndrome

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12 December 2020

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation

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12 December 2020

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

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12 December 2020

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

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12 December 2020

Human deafness dystonia syndrome is a mitochondrial disease

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12 December 2020

Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

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12 December 2020

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

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12 December 2020

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

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12 December 2020

Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.

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12 December 2020

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

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12 December 2020

Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background

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12 December 2020

Primary torsion dystonia: the search for genes is not over.

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12 December 2020

MPTP induces dystonia and parkinsonism. Clues to the pathophysiology of dystonia

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12 December 2020

Studies of mitochondrial DNA in Devic's disease revealed no pathogenic mutations, but polymorphisms also found in association with multiple sclerosis

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12 December 2020

A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome

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12 December 2020

Mitochondrial disorders: clinical and genetic features

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12 December 2020

Studies on the epidemiology and etiology of moldy sugarcane poisoning in China

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12 December 2020

The genetics of primary dystonias and related disorders

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12 December 2020

Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia

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12 December 2020

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

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12 December 2020

Heteroplasmy in Leber's hereditary optic neuropathy

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12 December 2020

Movement disorders and mitochondrial dysfunction

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12 December 2020

Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia

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12 December 2020

A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

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12 December 2020

Dystonia as the major manifestation of Leigh's syndrome.

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12 December 2020

Mitochondrial DNA in focal dystonia: A cybrid analysis

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12 December 2020

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

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12 December 2020

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups

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12 December 2020

Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians

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12 December 2020

A molecular basis for human hypersensitivity to aminoglycoside antibiotics

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12 December 2020

3-Nitropropionic acid-exogenous animal neurotoxin and possible human striatal toxin.

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12 December 2020

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy

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12 December 2020

Complex I function in familial and sporadic dystonia

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12 December 2020

Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins

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12 December 2020

Electron transfer complex I defect in idiopathic dystonia

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12 December 2020

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

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12 December 2020

Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease

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12 December 2020

Delayed onset of progressive dystonia following subacute 3-nitropropionic acid treatment in Cebus apella monkeys

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12 December 2020

10.1007/S10048-003-0150-3

Identifiers

DOI

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3 December 2017

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