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Author/Creator Botia, Juan A.

1. A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function. Issue 2 (27th November 2017)

Authors:
Salpietro, Vincenzo; Efthymiou, Stephanie; Manole, Andreea; Maurya, Bhawana; Wiethoff, Sarah; Ashokkumar, Balasubramaniem; Cutrupi, Maria Concetta; Dipasquale, Valeria; Manti, Sara; Botia, Juan A.; Ryten, Mina; Vandrovcova, Jana; Bello, Oscar D.; Bettencourt, Conceicao; Mankad, Kshitij; Mukherjee...
Journal:
Human mutation
Issue:
Volume 39:Issue 2(2018)
Page Start:
187
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Issue 12 (29th October 2019)

Authors:
Bandres‐Ciga, Sara; Ahmed, Sarah; Sabir, Marya S.; Blauwendraat, Cornelis; Adarmes‐Gómez, Astrid D.; Bernal‐Bernal, Inmaculada; Bonilla‐Toribio, Marta; Buiza‐Rueda, Dolores; Carrillo, Fátima; Carrión‐Claro, Mario; Gómez‐Garre, Pilar; Jesús, Silvia; Labrador‐Espinosa, Miguel A.; Macias, Daniel; Mé...
Other Names:
Noyce Alastair J investigator.; Kaiyrzhanov Rauan investigator.; Middlehurst Ben investigator.; Kia Demis A investigator.; Tan Manuela investigator.; Houlden Henry investigator.; Morris Huw R investigator.; Plun-Favreau Helene investigator.; Holmans Peter investigator.; Hardy John investigator.; ...
Journal:
Movement disorders
Issue:
Volume 34:Issue 12(2019)
Page Start:
1851
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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