Concepedia

Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

Rami Kaufmann, Rachel Straussberg, Hanna Mandel, Aviva Fattal‐Valevski, Bruria Ben‐Zeev, Adi Naamati, Avraham Shaag, Shamir Zenvirt, Osnat Konen, Aviva Mimouni-Bloch,

The American Journal of Human Genetics · 2010 · 72 citations · 7 references

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7

Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova et al. · The American Journal of Human Genetics · 2007 · 331 citations · Full text

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General requirement for RNA polymerase II holoenzymes in vivo.

Craig M. Thompson, Richard A. Young · Proceedings of the National Academy of Sciences · 1995 · 253 citations

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Hiba Risheg, John M. Graham, Robin D. Clark et al. · Nature Genetics · 2007 · 195 citations

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GeneDistiller—Distilling Candidate Genes from Linkage Intervals

Dominik Seelow, Jana Marie Schwarz, Markus Schuelke · PLoS ONE · 2008 · 115 citations · Full text

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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

Alejandro Leal, Kathrin Huehne, Finn Bauer et al. · Neurogenetics · 2009 · 81 citations · Full text

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