Literature DB >> 29982295

A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

Marina L Kennerson1,2,3, Alastair C Corbett2,4, Melina Ellis1, Gonzalo Perez-Siles1,2, Garth A Nicholson1,2,3.   

Abstract

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Year:  2018        PMID： 29982295     DOI： 10.1093/brain/awy184

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  3 in total

1.  Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

Authors:  Nicole J Van Bergen; Katrina M Bell; Kirsty Carey; Russell Gear; Sean Massey; Edward K Murrell; Lyndon Gallacher; Kate Pope; Paul J Lockhart; Andrew Kornberg; Lynn Pais; Marzena Walkiewicz; Cas Simons; Vihandha O Wickramasinghe; Susan M White; John Christodoulou
Journal:  Hum Mol Genet       Date:  2022-02-03       Impact factor: 5.121

2.  Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Authors:  Rosa Woldegebriel; Jouni Kvist; Noora Andersson; Katrin Õunap; Karit Reinson; Monica H Wojcik; Emilia K Bijlsma; Mariëtte J V Hoffer; Monique M Ryan; Zornitza Stark; Maie Walsh; Inge Cuppen; Marie-Jose H van den Boogaard; Diana Bharucha-Goebel; Sandra Donkervoort; Sara Winchester; Roberto Zori; Carsten G Bönnemann; Reza Maroofian; Emer O'Connor; Henry Houlden; Fang Zhao; Olli Carpén; Matthew White; Jemeen Sreedharan; Murray Stewart; Emil Ylikallio; Henna Tyynismaa
Journal:  Hum Mol Genet       Date:  2020-06-03       Impact factor: 6.150

3.  A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Authors:  Andre Megarbane; Sami Bizzari; Asha Deepthi; Sandra Sabbagh; Hicham Mansour; Eliane Chouery; Ghassan Hmaimess; Rosette Jabbour; Cybel Mehawej; Saada Alame; Abeer Hani; Dana Hasbini; Ismat Ghanem; Salam Koussa; Mahmoud Taleb Al-Ali; Marc Obeid; Diana Bou Talea; Gerard Lefranc; Nicolas Lévy; France Leturcq; Stephany El Hayek; Valérie Delague; J Andoni Urtizberea
Journal:  J Neuromuscul Dis       Date:  2022
  3 in total

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