No abstract available
Keywords:
AFG3L2; Exome sequencing; Eye-of-the-tiger; SCA28; SPG7.
MeSH terms
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ATP-Dependent Proteases / genetics*
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ATPases Associated with Diverse Cellular Activities / genetics*
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Adult
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Exome Sequencing
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Humans
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Intellectual Disability / diagnostic imaging*
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Intellectual Disability / genetics*
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Magnetic Resonance Imaging
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Male
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Metalloendopeptidases / genetics
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Muscle Spasticity / diagnostic imaging*
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Muscle Spasticity / genetics*
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Optic Atrophy / diagnostic imaging*
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Optic Atrophy / genetics*
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Pedigree
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Siblings
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Spinocerebellar Ataxias / diagnostic imaging*
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Spinocerebellar Ataxias / genetics*
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Young Adult
Substances
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ATP-Dependent Proteases
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AFG3L2 protein, human
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Metalloendopeptidases
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SPG7 protein, human
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ATPases Associated with Diverse Cellular Activities