Concepedia

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Andrew H. Crosby, Heema Patel, Barry A. Chioza, Christos Proukakis, Kay Gurtz, Michael A. Patton, Reza Seyed Sharifi, Gaurav V. Harlalka, Michael A. Simpson, Katherine Dick,

The American Journal of Human Genetics · 2010 · 87 citations · 15 references

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15

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

Eric M. Sobel, Kenneth Lange · PubMed · 1996 · 1.2K citations · Full text

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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 829 citations · Full text

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Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Michael A. Simpson, Christos Proukakis, David A. Priestman et al. · Nature Genetics · 2004 · 385 citations

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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 344 citations

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SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

Heema Patel, Christos Proukakis, R. Jane Hershberger et al. · Nature Genetics · 2002 · 262 citations

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