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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

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Title: Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Authors: Pierson TM; NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America. piersonty@ninds.nih.gov, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C
Source: PLoS genetics [PLoS Genet] 2011 Oct; Vol. 7 (10), pp. e1002325. Date of Electronic Publication: 2011 Oct 13.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
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  Data: <searchLink fieldCode="AU" term="%22Pierson+TM%22">Pierson TM</searchLink>; NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America. piersonty@ninds.nih.gov<br /><searchLink fieldCode="AU" term="%22Adams+D%22">Adams D</searchLink><br /><searchLink fieldCode="AU" term="%22Bonn+F%22">Bonn F</searchLink><br /><searchLink fieldCode="AU" term="%22Martinelli+P%22">Martinelli P</searchLink><br /><searchLink fieldCode="AU" term="%22Cherukuri+PF%22">Cherukuri PF</searchLink><br /><searchLink fieldCode="AU" term="%22Teer+JK%22">Teer JK</searchLink><br /><searchLink fieldCode="AU" term="%22Hansen+NF%22">Hansen NF</searchLink><br /><searchLink fieldCode="AU" term="%22Cruz+P%22">Cruz P</searchLink><br /><searchLink fieldCode="AU" term="%22Mullikin+For+The+Nisc+Comparative+Sequencing+Program+JC%22">Mullikin For The Nisc Comparative Sequencing Program JC</searchLink><br /><searchLink fieldCode="AU" term="%22Blakesley+RW%22">Blakesley RW</searchLink><br /><searchLink fieldCode="AU" term="%22Golas+G%22">Golas G</searchLink><br /><searchLink fieldCode="AU" term="%22Kwan+J%22">Kwan J</searchLink><br /><searchLink fieldCode="AU" term="%22Sandler+A%22">Sandler A</searchLink><br /><searchLink fieldCode="AU" term="%22Fuentes+Fajardo+K%22">Fuentes Fajardo K</searchLink><br /><searchLink fieldCode="AU" term="%22Markello+T%22">Markello T</searchLink><br /><searchLink fieldCode="AU" term="%22Tifft+C%22">Tifft C</searchLink><br /><searchLink fieldCode="AU" term="%22Blackstone+C%22">Blackstone C</searchLink><br /><searchLink fieldCode="AU" term="%22Rugarli+EI%22">Rugarli EI</searchLink><br /><searchLink fieldCode="AU" term="%22Langer+T%22">Langer T</searchLink><br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink><br /><searchLink fieldCode="AU" term="%22Toro+C%22">Toro C</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2011 Oct; Vol. 7 (10), pp. e1002325. <i>Date of Electronic Publication: </i>2011 Oct 13.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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