Neurological outcome in WDR62 primary microcephaly-Reference-Cited by-同舟云学术

Neurological outcome in WDR62 primary microcephaly

Published:2021-09-25 Issue: Volume: Page:
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Ruaud Lyse¹^ORCID,Drunat Séverine¹^ORCID,Elmaleh‐Bergès Monique²^ORCID,Ernault Anais³,Guilmin Crepon Sophie⁴^ORCID,El Ghouzzi Vincent⁵^ORCID,Auvin Stéphane⁶⁷^ORCID,Verloes Alain¹^ORCID,Passemard Sandrine⁶^ORCID,Van Maldergem Lionel,Engel Camille,Altuzarra Cecilia,Lamidieu Charlie,Bayat Allan,Moortgat Stéphanie,Pelc Karine,Maystadt Isabelle,Abramowicz Marc,Pirson Isabelle,Duerinckx Sarah,Rostomashvili Nino,Zweier Christiane,Abou Jamra Rami,Lorenz Imke,Haye Damien,Zaafrane‐Khachnaoui Khaoula,Vaessen Sandrine,Capri Yline,Servais Laurent,Di Maria Emilio,Kohlhase Jürgen,Bast Thomas,Miladi Najoua,Dali Selma,

Affiliation:

1. Département de Génétique UMR 1141 NEURODIDEROT INSERM APHP Hôpital Universitaire Robert Debré Université de Paris ParisFrance

2. Service d’Imagerie Pédiatrique APHP Hôpital Universitaire Robert Debré ParisFrance

3. Département de Génétique APHP Hôpital Universitaire Robert Debré ParisFrance

4. Unité d’Epidémiologie Clinique APHP Hôpital Universitaire Robert Debré ParisFrance

5. UMR 1141 NEURODIDEROT INSERM Université de Paris ParisFrance

6. Service de Neurologie Pédiatrique UMR 1141 NEURODIDEROT INSERM APHP Hôpital Universitaire Robert Debré Université de Paris Paris France

7. Institut universitaire de France (IUF) Paris France

Funder

Agence Nationale de la Recherche

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15060

Reference27 articles.

1. WDR62 is associated with the spindle pole and is mutated in human microcephaly

2. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

3. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

4. Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size

5. Microcephaly‐associated protein WDR62 regulates neurogenesis through JNK1 in the developing neocortex;Xu D;Cell Rep,2014

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1. Homozygous Intragenic Deletion in <i>WDR62</i> in Siblings with Primary Microcephaly;Molecular Syndromology;2024-07-20

2. Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly;Molecular Biology Reports;2024-06-26

3. Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript;Frontiers in Neurology;2024-03-21

4. Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size;Cells;2023-07-07

5. Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly;Irish Journal of Medical Science (1971 -);2022-01-15