Literature DB >> 32006098

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

Mohammed AlMuhaizea1,2, Rawan AlMass3, Aljouhra AlHargan3, Anoud AlBader3, Eva Medico Salsench4, Jude Howaidi3, Jacie Ihinger5, Peter Karachunski6, Amber Begtrup7, Monica Segura Castell8, Peter Bauer8, Aida Bertoli-Avella8, Ibrahim H Kaya2, Jumanah AlSufayan3, Laila AlQuait3, Aziza Chedrawi1, Stefan T Arold9,10, Dilek Colak11, Tahsin Stefan Barakat12, Namik Kaya13.   

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Year:  2020        PMID: 32006098     DOI: 10.1007/s00401-020-02128-8

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN: 0001-6322            Impact factor:   17.088


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  8 in total

Review 1.  Exploring the eukaryotic Yip and REEP/Yop superfamily of membrane-shaping adapter proteins (MSAPs): A cacophony or harmony of structure and function?

Authors:  Timothy Angelotti
Journal:  Front Mol Biosci       Date:  2022-08-19

2.  Clinical and genetic findings in patients with congenital cataract and heart diseases.

Authors:  Xinru Li; Nuo Si; Zixun Song; Yaqiong Ren; Wei Xiao
Journal:  Orphanet J Rare Dis       Date:  2021-05-31       Impact factor: 4.123

3.  Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).

Authors:  Mohammed Z Seidahmed; Muddathir H Hamad; Albandary AlBakheet; Salah A Elmalik; Abdulmajeed AlDrees; Jumanah Al-Sufayan; Ibrahim Alorainy; Ibrahim M Ghozzi; Dilek Colak; Mustafa A Salih; Namik Kaya
Journal:  BMC Neurol       Date:  2020-05-25       Impact factor: 2.474

4.  Prognostic and immune regulating roles of YIF1B in Pan-Cancer: a potential target for both survival and therapy response evaluation.

Authors:  Jun Liu; Zheng Chen; Pingsen Zhao; Wenli Li
Journal:  Biosci Rep       Date:  2020-07-31       Impact factor: 3.840

5.  A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

Authors:  Mazhor Aldosary; Maysoon Alsagob; Hanan AlQudairy; Ana C González-Álvarez; Stefan T Arold; Mohammad Anas Dababo; Omar A Alharbi; Rawan Almass; AlBandary AlBakheet; Dalia AlSarar; Alya Qari; Mysoon M Al-Ansari; Monika Oláhová; Saif A Al-Shahrani; Moeenaldeen AlSayed; Dilek Colak; Robert W Taylor; Mohammed AlOwain; Namik Kaya
Journal:  Cells       Date:  2022-10-07       Impact factor: 7.666

6.  SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

Authors:  Mazhor Aldosary; Shahad Baselm; Maha Abdulrahim; Rawan Almass; Maysoon Alsagob; Zainab AlMasseri; Rozeena Huma; Laila AlQuait; Tarfa Al-Shidi; Eman Al-Obeid; Albandary AlBakheet; Basma Alahideb; Lujane Alahaidib; Alya Qari; Robert W Taylor; Dilek Colak; Moeenaldeen D AlSayed; Namik Kaya
Journal:  JIMD Rep       Date:  2021-05-04

7.  A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.

Authors:  Hesham Aldhalaan; Albandary AlBakheet; Sarah AlRuways; Nouf AlMutairi; Maha AlNakiyah; Reema AlGhofaili; Kelly J Cardona-Londoño; Khalid Omar Alahmadi; Hanan AlQudairy; Maha M AlRasheed; Dilek Colak; Stefan T Arold; Namik Kaya
Journal:  Genes (Basel)       Date:  2021-12-30       Impact factor: 4.096

8.  Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.

Authors:  Eva Medico Salsench; Reza Maroofian; Ruizhi Deng; Kristina Lanko; Anita Nikoncuk; Belén Pérez; Obdulia Sánchez-Lijarcio; Salvador Ibáñez-Mico; Antonina Wojcik; Marcelo Vargas; Nouriya Abbas Al-Sannaa; Marian Y Girgis; Tainá Regina Damaceno Silveira; Peter Bauer; Audrey Schroeder; Chin-To Fong; Amber Begtrup; Meisam Babaei; Mehran Beiraghi Toosi; Farah Ashrafzadeh; Shima Imannezhad; Mohammad Doosti; Najmeh Ahangari; Paria Najarzadeh Torbati; Ehsan Ghayoor Karimiani; David Murphy; Elisa Cali; Ibrahim H Kaya; Mohammad AlMuhaizea; Dilek Colak; Kelly J Cardona-Londoño; Stefan T Arold; Henry Houlden; Aida Bertoli-Avella; Namik Kaya; Tahsin Stefan Barakat
Journal:  Brain       Date:  2021-11-29       Impact factor: 13.501

  8 in total

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