Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia.

Literature DB >> 30713859

Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia.

Sarah Thompson¹, Anand Iyer¹, Philip Byrd², Malcolm Taylor², Stefan Spinty¹.

Abstract

Entities: Disease

Keywords: ataxia telangiectasia; levodopa; movement disorder

Year: 2014 PMID： 30713859 PMCID： PMC6353315 DOI： 10.1002/mdc3.12048

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

× No keyword cloud information.

7 in total

1. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Authors: Mijke M M Verhagen; James I Last; Frans B L Hogervorst; Dominique F C M Smeets; Nel Roeleveld; Frans Verheijen; Coriene E Catsman-Berrevoets; Nico M Wulffraat; Jan M Cobben; Johan Hiel; Ewout R Brunt; Els A J Peeters; Encarna B Gómez Garcia; Marjo S van der Knaap; Carsten R Lincke; Laura A E M Laan; Marina A J Tijssen; Monique A van Rijn; Danielle Majoor-Krakauer; Marjan Visser; Laura J van 't Veer; Wim J Kleijer; Bart P C van de Warrenburg; Adilia Warris; Imelda J M de Groot; Ronald de Groot; Annegien Broeks; Frank Preijers; Berry H P H Kremer; Corry M R Weemaes; Malcolm A M R Taylor; Marcel van Deuren; Michèl A A P Willemsen
Journal: Hum Mutat Date: 2012-01-25 Impact factor: 4.878

Review 2. ATM and the molecular pathogenesis of ataxia telangiectasia.

Authors: Peter J McKinnon
Journal: Annu Rev Pathol Date: 2011-10-24 Impact factor: 23.472

3. Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?

Authors: Andreea Nissenkorn; Yonit Banet Levi; Daphna Vilozni; Yakov Berkun; Ori Efrati; Moshe Frydman; Jacob Yahav; Dalia Waldman; Raz Somech; Efrat Shenhod; Shay Menascu; Bruria Ben-Zeev
Journal: J Pediatr Date: 2011-03-22 Impact factor: 4.406

4. Clinical spectrum of ataxia-telangiectasia in adulthood.

Authors: M M M Verhagen; W F Abdo; M A A P Willemsen; F B L Hogervorst; D F C M Smeets; J A P Hiel; E R Brunt; M A van Rijn; D Majoor Krakauer; R A Oldenburg; A Broeks; J I Last; L J van't Veer; M A J Tijssen; A M I Dubois; H P H Kremer; C M R Weemaes; A M R Taylor; M van Deuren
Journal: Neurology Date: 2009-06-17 Impact factor: 9.910

5. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals.

Authors: C G Woods; A M Taylor
Journal: Q J Med Date: 1992-02

6. The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada.

Authors: Michael S Salman; Esther J Lee; Anindita Tjahjadi; Bernard N Chodirker
Journal: Dev Med Child Neurol Date: 2013-02-07 Impact factor: 5.449

7. Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Authors: Gavin Charlesworth; Mahavir D Mohire; Susanne A Schneider; Maria Stamelou; Nicholas W Wood; Kailash P Bhatia
Journal: Neurology Date: 2013-08-14 Impact factor: 9.910

7 in total

5 in total

Review 1. Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders.

Authors: Ivana Rocha Raslan; Paula Camila Alves de Assis Pereira Matos; Vinícius Boaratti Ciarlariello; Karyme Hussein Daghastanli; Augusto Bragança Reis Rosa; Juliana Harumi Arita; Carolina Sanchez Aranda; Orlando Graziani Povoas Barsottini; José Luiz Pedroso
Journal: Mov Disord Clin Pract Date: 2020-11-19

2. Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Authors: Michaela Pogoda; Franz-Joachim Hilke; Ebba Lohmann; Marc Sturm; Florian Lenz; Jakob Matthes; Francesc Muyas; Stephan Ossowski; Alexander Hoischen; Ulrike Faust; Ilnaz Sepahi; Nicolas Casadei; Sven Poths; Olaf Riess; Christopher Schroeder; Kathrin Grundmann
Journal: Front Neurol Date: 2019-12-18 Impact factor: 4.003