Literature DB >> 28399591

Autosomal Recessive Primary Microcephaly (MCPH): An Update.

Sami Zaqout1,2,3,4, Deborah Morris-Rosendahl5,6, Angela M Kaindl1,2,3,4.   

Abstract

Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians. Georg Thieme Verlag KG Stuttgart · New York.

Entities:  

Mesh：

Year:  2017        PMID： 28399591     DOI： 10.1055/s-0037-1601448

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  24 in total

1.  Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.

Authors:  Piero Pavone; Xena Giada Pappalardo; Andrea Domenico Praticò; Agata Polizzi; Martino Ruggieri; Maria Piccione; Giovanni Corsello; Raffaele Falsaperla
Journal:  J Pediatr Genet       Date:  2020-04-23

Review 2.  Impact of DNA repair and stability defects on cortical development.

Authors:  Federico T Bianchi; Gaia E Berto; Ferdinando Di Cunto
Journal:  Cell Mol Life Sci       Date:  2018-08-16       Impact factor: 9.261

Review 3.  The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.

Authors:  Belal Shohayeb; Nicholas Rui Lim; Uda Ho; Zhiheng Xu; Mirella Dottori; Leonie Quinn; Dominic Chi Hiung Ng
Journal:  Mol Neurobiol       Date:  2017-09-22       Impact factor: 5.590

4.  Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.

Authors:  Ayberk Türkyılmaz; Safiye Gunes Sager
Journal:  Mol Syndromol       Date:  2021-09-15

Review 5.  A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.

Authors:  Melinda Zombor; Tibor Kalmár; Nikoletta Nagy; Marianne Berényi; Borbála Telcs; Zoltán Maróti; Oliver Brandau; László Sztriha
Journal:  J Appl Genet       Date:  2019-02-01       Impact factor: 3.240

Review 6.  In vitro modeling for inherited neurological diseases using induced pluripotent stem cells: from 2D to organoid.

Authors:  Ki Hong Nam; Sang Ah Yi; Hyun Ji Jang; Jeung-Whan Han; Jaecheol Lee
Journal:  Arch Pharm Res       Date:  2020-08-05       Impact factor: 4.946

Review 7.  Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Authors:  Muhammad Naveed; Syeda Khushbakht Kazmi; Mariyam Amin; Zainab Asif; Ushna Islam; Kinza Shahid; Sana Tehreem
Journal:  Genet Res (Camb)       Date:  2018-08-08       Impact factor: 1.588

Review 8.  Molecular Genetics of Microcephaly Primary Hereditary: An Overview.

Authors:  Nikistratos Siskos; Electra Stylianopoulou; Georgios Skavdis; Maria E Grigoriou
Journal:  Brain Sci       Date:  2021-04-30

9.  Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population.

Authors:  Niaz Muhammad Khan; Basharat Hussain; Chenqing Zheng; Ayaz Khan; Muhammad Shareef Masoud; Qingquan Gu; Linhui Qiu; Naveed Altaf Malik; Muhammad Qasim; Muhammad Tariq; Junlei Chang
Journal:  Front Pediatr       Date:  2021-07-06       Impact factor: 3.418

10.  Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.

Authors:  Ethiraj Ravindran; Ramona Jühlen; Carlos H Vieira-Vieira; Thuong Ha; Yuval Salzberg; Boris Fichtman; Lena Luise-Becker; Nuno Martins; Sylvie Picker-Minh; Paraskevi Bessa; Peer Arts; Matilda R Jackson; Ajay Taranath; Benjamin Kamien; Christopher Barnett; Na Li; Victor Tarabykin; Gisela Stoltenburg-Didinger; Amnon Harel; Matthias Selbach; Achim Dickmanns; Birthe Fahrenkrog; Hao Hu; Hamish Scott; Angela M Kaindl
Journal:  Hum Mol Genet       Date:  2021-11-01       Impact factor: 5.121
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