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Results: 1-3 |
Results: 3
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein
Authors: Tiranti, Valeria D'Adamo, Pio Briem, Egill Ferrari, Gianfrancesco Mineri, Rossana Lamantea, Eleonora Mandel, Hanna Balestri, Paolo Garcia-Silva, Maria-Teresa Vollmer, Brigitte Rinaldo, Piero Hahn, Si Houn Leonard, James Rahman, Shamima Dionisi-Vici, Carlo Garavaglia, Barbara Gasparini, Paolo Zeviani, Massimo
Citation: Tiranti, Valeria et al., Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein, American journal of human genetics , 74(2), 2004, pp. 239-252
A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma
Authors: Sprecher, Eli Ishida-Yamamoto, Akemi Miizrahi-Koren, Mordechai Rapaport, Debora Goldsher, Dorit Indelman, Margarita Topaz, Orit Chefetz, Ilana Keren, Hanni O'Brien, Timothy J. Bercovich, Dani Shalev, Stavit Geiger, Dan Bergman, Reuven Horowitz, Mia Mandel, Hanna
Citation: Sprecher, Eli et al., A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma, American journal of human genetics , 77(2), 2005, pp. 242-251
Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex
Authors: Kaufmann, Rami Straussberg, Rachel Mandel, Hanna Fattal-Valevski, Aviva Elpeleg, Orly
Citation: Kaufmann, Rami et al., Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 667-670
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