Literature DB >> 33426173

Dystonia and Myelopathy in a Case of Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS).

Biswamohan Mishra1, Saman Fatima1, Ayush Agarwal1, Divya M Radhakrishnan1, Ajay Garg1, Achal K Srivastava1.   

Abstract

Entities:  

Keywords:  CONDSIAS, LETM, ADPRHL2, quadriparesis, ataxia

Year:  2020        PMID： 33426173      PMCID： PMC7780941          DOI： 10.1002/mdc3.13125

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  6 in total

1.  Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Authors:  Katharina Danhauser; Bader Alhaddad; Christine Makowski; Dorota Piekutowska-Abramczuk; Steffen Syrbe; Natalia Gomez-Ospina; Melanie A Manning; Anna Kostera-Pruszczyk; Claudia Krahn-Peper; Riccardo Berutti; Reka Kovács-Nagy; Mirjana Gusic; Elisabeth Graf; Lucia Laugwitz; Michaela Röblitz; Andreas Wroblewski; Hans Hartmann; Anibh M Das; Eva Bültmann; Fang Fang; Manting Xu; Ulrich A Schatz; Daniela Karall; Herta Zellner; Edda Haberlandt; René G Feichtinger; Johannes A Mayr; Thomas Meitinger; Holger Prokisch; Tim M Strom; Rafał Płoski; Georg F Hoffmann; Maciej Pronicki; Penelope E Bonnen; Susanne Morlot; Tobias B Haack
Journal:  Am J Hum Genet       Date:  2018-10-25       Impact factor: 11.025

2.  Mendelian Inheritance in Man and its online version, OMIM.

Authors:  Victor A McKusick
Journal:  Am J Hum Genet       Date:  2007-03-08       Impact factor: 11.025

3.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

4.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.

Authors:  Danielle Welter; Jacqueline MacArthur; Joannella Morales; Tony Burdett; Peggy Hall; Heather Junkins; Alan Klemm; Paul Flicek; Teri Manolio; Lucia Hindorff; Helen Parkinson
Journal:  Nucleic Acids Res       Date:  2013-12-06       Impact factor: 16.971

5.  Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Authors:  Shereen G Ghosh; Kerstin Becker; He Huang; Tracy Dixon-Salazar; Guoliang Chai; Vincenzo Salpietro; Lihadh Al-Gazali; Quinten Waisfisz; Haicui Wang; Keith K Vaux; Valentina Stanley; Andreea Manole; Ugur Akpulat; Marjan M Weiss; Stephanie Efthymiou; Michael G Hanna; Carlo Minetti; Pasquale Striano; Livia Pisciotta; Elisa De Grandis; Janine Altmüller; Peter Nürnberg; Holger Thiele; Uluc Yis; Tuncay Derya Okur; Ayse Ipek Polat; Nafise Amiri; Mohammad Doosti; Ehsan Ghayoor Karimani; Mehran B Toosi; Gabriel Haddad; Mert Karakaya; Brunhilde Wirth; Johanna M van Hagen; Nicole I Wolf; Reza Maroofian; Henry Houlden; Sebahattin Cirak; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2018-08-09       Impact factor: 11.025

6.  ClinVar: public archive of interpretations of clinically relevant variants.

Authors:  Melissa J Landrum; Jennifer M Lee; Mark Benson; Garth Brown; Chen Chao; Shanmuga Chitipiralla; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Jeffrey Hoover; Wonhee Jang; Kenneth Katz; Michael Ovetsky; George Riley; Amanjeev Sethi; Ray Tully; Ricardo Villamarin-Salomon; Wendy Rubinstein; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2015-11-17       Impact factor: 16.971
  6 in total
  2 in total

1.  Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks: Phenotypic Variability of the Same Mutation in Two Turkish Patients.

Authors:  Gulten Ozturk; Akif Ayaz; Yasemin Topcu; Gülcan Akyuz; Olcay Unver; Ismail Hakk Akbeyaz; Gazanfer Ekinci; Dilsad Turkdogan
Journal:  Ann Indian Acad Neurol       Date:  2021-11-10       Impact factor: 1.714

2.  Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2.

Authors:  Aijun Lu; Chunxia Dong; Bihong Chen; Lei Xie; Huaiqiang Hu
Journal:  Front Neurol       Date:  2022-02-11       Impact factor: 4.003
  2 in total

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