Literature DB >> 26437881

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.

Makanko Komara1, Anne John1, Jehan Suleiman2,3, Bassam R Ali1, Lihadh Al-Gazali2.   

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Year:  2015        PMID： 26437881     DOI： 10.1002/ajmg.a.37421

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.

Authors:  Tibor Kalmár; Katalin Szakszon; Zoltán Maróti; Alíz Zimmermann; Adrienn Máté; Melinda Zombor; Csaba Bereczki; László Sztriha
Journal:  J Pediatr Genet       Date:  2020-05-28

Review 2.  Systematic review of autosomal recessive ataxias and proposal for a classification.

Authors:  Marie Beaudin; Christopher J Klein; Guy A Rouleau; Nicolas Dupré
Journal:  Cerebellum Ataxias       Date:  2017-02-23

Review 3.  The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Authors:  Marie Beaudin; Antoni Matilla-Dueñas; Bing-Weng Soong; Jose Luiz Pedroso; Orlando G Barsottini; Hiroshi Mitoma; Shoji Tsuji; Jeremy D Schmahmann; Mario Manto; Guy A Rouleau; Christopher Klein; Nicolas Dupre
Journal:  Cerebellum       Date:  2019-12       Impact factor: 3.847

4.  Reduction of WDR81 impairs autophagic clearance of aggregated proteins and cell viability in neurodegenerative phenotypes.

Authors:  Xuezhao Liu; Limin Yin; Tianyou Li; Lingxi Lin; Jie Zhang; Yang Li
Journal:  PLoS Genet       Date:  2021-03-17       Impact factor: 5.917

5.  A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.

Authors:  Malihe Mohamadian; Pegah Ghandil; Mohsen Naseri; Afsane Bahrami; Ali Akbar Momen
Journal:  J Clin Lab Anal       Date:  2020-07-17       Impact factor: 2.352

6.  Genomics of human congenital hydrocephalus.

Authors:  Adam J Kundishora; Amrita K Singh; Garrett Allington; Phan Q Duy; Jian Ryou; Seth L Alper; Sheng Chih Jin; Kristopher T Kahle
Journal:  Childs Nerv Syst       Date:  2021-07-07       Impact factor: 1.475

7.  Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Authors:  Jiasun Su; Weiliang Lu; Mengting Li; Qiang Zhang; Fei Chen; Shang Yi; Qi Yang; Sheng Yi; Xunzhao Zhou; Limei Huang; Yiping Shen; Jingsi Luo; Zailong Qin
Journal:  Mol Genet Genomic Med       Date:  2021-03-16       Impact factor: 2.183
  7 in total

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