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Literature DB >> 31501304

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation.

Marissa Dean¹, Ludwine Messiaen², Gregory M Cooper², Michelle D Amaral², Salman Rashid², Bruce R Korf², David G Standaert².

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2019 PMID： 31501304 PMCID： PMC6746208 DOI： 10.1212/WNL.0000000000008089

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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12 in total

Review 1. Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

Authors: F Sedel; B Fontaine; J M Saudubray; O Lyon-Caen
Journal: J Inherit Metab Dis Date: 2007-10-22 Impact factor: 4.982

Review 2. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.

Authors: Victor S C Fung; H A Jinnah; Kailash Bhatia; Marie Vidailhet
Journal: Mov Disord Date: 2013-06-15 Impact factor: 10.338

3. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Authors: Dong-Hui Chen; Aurélie Méneret; Jennifer R Friedman; Olena Korvatska; Alona Gad; Emily S Bonkowski; Holly A Stessman; Diane Doummar; Cyril Mignot; Mathieu Anheim; Saunder Bernes; Marie Y Davis; Nathalie Damon-Perrière; Bertrand Degos; David Grabli; Domitille Gras; Fuki M Hisama; Katherine M Mackenzie; Phillip D Swanson; Christine Tranchant; Marie Vidailhet; Steven Winesett; Oriane Trouillard; Laura M Amendola; Michael O Dorschner; Michael Weiss; Evan E Eichler; Ali Torkamani; Emmanuel Roze; Thomas D Bird; Wendy H Raskind
Journal: Neurology Date: 2015-11-04 Impact factor: 9.910

4. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

Authors: Ying-Zhang Chen; Jennifer R Friedman; Dong-Hui Chen; Guy C-K Chan; Cinnamon S Bloss; Fuki M Hisama; Sarah E Topol; Andrew R Carson; Phillip H Pham; Emily S Bonkowski; Erick R Scott; Janel K Lee; Guangfa Zhang; Glenn Oliveira; Jian Xu; Ashley A Scott-Van Zeeland; Qi Chen; Samuel Levy; Eric J Topol; Daniel Storm; Phillip D Swanson; Thomas D Bird; Nicholas J Schork; Wendy H Raskind; Ali Torkamani
Journal: Ann Neurol Date: 2014-03-13 Impact factor: 10.422

5. Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.

Authors: Marie-Gabrielle Ludwig; Klaus Seuwen
Journal: J Recept Signal Transduct Res Date: 2002 Feb-Nov Impact factor: 2.092

6. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Authors: Ying-Zhang Chen; Mark M Matsushita; Peggy Robertson; Mark Rieder; Santhosh Girirajan; Francesca Antonacci; Hillary Lipe; Evan E Eichler; Deborah A Nickerson; Thomas D Bird; Wendy H Raskind
Journal: Arch Neurol Date: 2012-05

7. 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

8. Phenotypic insights into ADCY5-associated disease.

Authors: Florence C F Chang; Ana Westenberger; Russell C Dale; Martin Smith; Hardev S Pall; Belen Perez-Dueñas; Padraic Grattan-Smith; Robert A Ouvrier; Neil Mahant; Bernadette C Hanna; Matthew Hunter; John A Lawson; Christoph Max; Rani Sachdev; Esther Meyer; Dennis Crimmins; Donald Pryor; John G L Morris; Alex Münchau; Detelina Grozeva; Keren J Carss; Lucy Raymond; Manju A Kurian; Christine Klein; Victor S C Fung
Journal: Mov Disord Date: 2016-04-08 Impact factor: 10.338