Literature DB >> 29736678

[Juvenile familial vertebrobasilar brain infarctions due to adenosine deaminase 2 deficiency].

T Etgen1,2, T Kiefer3, M Luther4, R Haberl3.   

Abstract

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Year:  2018        PMID: 29736678     DOI: 10.1007/s00115-018-0530-4

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


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  4 in total

1.  Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors:  Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

2.  ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Authors:  Roberta Caorsi; Federica Penco; Alice Grossi; Antonella Insalaco; Alessia Omenetti; Maria Alessio; Giovanni Conti; Federico Marchetti; Paolo Picco; Alberto Tommasini; Silvana Martino; Clara Malattia; Romina Gallizi; Rosa Anna Podda; Annalisa Salis; Fernanda Falcini; Francesca Schena; Francesca Garbarino; Alessia Morreale; Manuela Pardeo; Claudia Ventrici; Chiara Passarelli; Qing Zhou; Mariasavina Severino; Carlo Gandolfo; Gianluca Damonte; Alberto Martini; Angelo Ravelli; Ivona Aksentijevich; Isabella Ceccherini; Marco Gattorno
Journal:  Ann Rheum Dis       Date:  2017-05-18       Impact factor: 19.103

3.  Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

Authors:  Joris M Van Montfrans; Esther A R Hartman; Kees P J Braun; Eric A M Hennekam; Elisabeth A Hak; Paul J Nederkoorn; Willeke F Westendorp; Robbert G M Bredius; Wouter J W Kollen; Elisabeth H Schölvinck; G Elizabeth Legger; Isabelle Meyts; Adrian Liston; Klaske D Lichtenbelt; Jacques C Giltay; Gijs Van Haaften; Gaby M De Vries Simons; Helen Leavis; Cornelis J G Sanders; Marc B Bierings; Stefan Nierkens; Marielle E Van Gijn
Journal:  Rheumatology (Oxford)       Date:  2016-02-10       Impact factor: 7.580

Review 4.  [Juvenile stroke - what is important?]

Authors:  M Fischer; B Eckert; J Röther
Journal:  Nervenarzt       Date:  2018-02       Impact factor: 1.214

  4 in total

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