Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

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Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

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Reply: Genotype-phenotype corr ...... just of scientific relevance.

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Reply: Genotype-phenotype corr ...... just of scientific relevance.

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Reply: Genotype-phenotype corr ...... just of scientific relevance.

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Reply: Genotype-phenotype corr ...... t just of scientific relevance

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Ann E Frazier

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Antonella Spinazzola

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Ian J Holt

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P2860

Analysis of protein-coding genetic variation in 60,706 humans

C. elegans ATAD-3 is essential for mitochondrial activity and development

Atad3 function is essential for early post-implantation development in the mouse

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

The AAA+ ATPase ATAD3A controls mitochondrial dynamics at the interface of the inner and outer membranes.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

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e67

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scholarly article

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10.1093/BRAIN/AWX240

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English

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140

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2017-11-01T00:00:00Z

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29053800

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