A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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Phenotypic Heterogeneity of the m.14459G>A Mutation.

P2860

Q53713885-80F4103C-BF2A-46A3-A63A-9216189298D7

P2860

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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2016 nî lūn-bûn

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A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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P1476

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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P2093

Ali Naini

http://www.w3.org/2001/XMLSchema#string

Darryl C De Vivo

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H Orhan Akman

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Jesheng Lu

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Jorida Çoku

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Kristin Engelstad

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Michio Hirano

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Yasemin Gulcan Kurt

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P2860

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

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

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

Observation and modeling of deep brain stimulation electrode depth in the pallidal target of the developing brain.

Dystonia: Five new things.

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene.

Cytochrome c oxidase deficiency in Leigh syndrome.

Postural stability under globus pallidus internus stimulation for dystonia.

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2329048X15627937

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scholarly article

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10.1177/2329048X15627937

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Salvatore DiMauro

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2016-01-01T00:00:00Z

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28503604

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5417276

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A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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P2860

P2860

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

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P2860

P304

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P356

P478

P50

P577

P698

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P356

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P1476

P2093

P2860

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P356

P478

P50

P577

P698

P932