Literature DB >> 24486243

Parkinsonism may be part of the symptom complex of DOOR syndrome.

Leonilda Bilo1, Silvio Peluso2, Antonella Antenora1, Anna De Rosa1, Gennaro Auletta1, Sabina Pappatà3, Giuseppe De Michele1.   

Abstract

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Year:  2014        PMID: 24486243     DOI: 10.1016/j.parkreldis.2014.01.014

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


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  3 in total

1.  Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

Authors:  Elisenda Cortès-Saladelafont; Noa Lipstein; Àngels García-Cazorla
Journal:  J Inherit Metab Dis       Date:  2018-07-18       Impact factor: 4.982

2.  Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.

Authors:  Erika Banuelos; Keri Ramsey; Newell Belnap; Malavika Krishnan; Chris Balak; Szabolcs Szelinger; Ashley L Siniard; Megan Russell; Ryan Richholt; Matt De Both; Ignazio Piras; Marcus Naymik; Ana M Claasen; Sampathkumar Rangasamy; Matthew J Huentelman; David W Craig; Philippe M Campeau; Vinodh Narayanan; Isabelle Schrauwen
Journal:  F1000Res       Date:  2017-04-24

3.  TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Authors:  Simona Balestrini; Mathieu Milh; Claudia Castiglioni; Kevin Lüthy; Mattea J Finelli; Patrik Verstreken; Aaron Cardon; Barbara Gnidovec Stražišar; J Lloyd Holder; Gaetan Lesca; Maria M Mancardi; Anne L Poulat; Gabriela M Repetto; Siddharth Banka; Leonilda Bilo; Laura E Birkeland; Friedrich Bosch; Knut Brockmann; J Helen Cross; Diane Doummar; Temis M Félix; Fabienne Giuliano; Mutsuki Hori; Irina Hüning; Hulia Kayserili; Usha Kini; Melissa M Lees; Girish Meenakshi; Leena Mewasingh; Alistair T Pagnamenta; Silvio Peluso; Antje Mey; Gregory M Rice; Jill A Rosenfeld; Jenny C Taylor; Matthew M Troester; Christine M Stanley; Dorothee Ville; Magdalena Walkiewicz; Antonio Falace; Anna Fassio; Johannes R Lemke; Saskia Biskup; Jessica Tardif; Norbert F Ajeawung; Aslihan Tolun; Mark Corbett; Jozef Gecz; Zaid Afawi; Katherine B Howell; Karen L Oliver; Samuel F Berkovic; Ingrid E Scheffer; Fabrizio A de Falco; Peter L Oliver; Pasquale Striano; Federico Zara; Phillipe M Campeau; S M Sisodiya
Journal:  Neurology       Date:  2016-06-08       Impact factor: 9.910

  3 in total

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