Publications
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Towns C, Richer M, Jasaityte S, Stafford EJ, Joubert J, Antar T, Martinez-Carrasco A, Makarious MB, Casey B, Vitale D, Levine K, Leonard H, Pantazis CB, Screven LA, Hernandez DG, Wegel CE, Solle J, Nalls MA, Blauwendraat C, Singleton AB, Tan MMX, Iwaki H and Morris HR.
Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)
npj Parkinsons Disease . 9(1): 131-131. Number of citations: 16
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Cantarero-Abad L, García-Vargas G, Hoenicka J and Palau F.
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites
BIOLOGY OPEN . 12(4): . Number of citations: 7
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Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
ACTA NEUROPATHOLOGICA . 145(4): 479-496. Number of citations: 3
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Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants
Annals of Clinical and Translational Neurology . 10(3): 408-425. Number of citations: 4
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Schumacher-Schuh AF, Bieger A, Okunoye O, Mok KY, Lim SY, Bardien S, Ahmad-Annuar A, Santos-Lobato BL, Strelow MZ, Salama M, Rao SC, Zewde YZ, Dindayal S, Azar J, Prashanth LK, Rajan R, Noyce AJ, Okubadejo N, Rizig M, Lesage S and Mata IF.
Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions
MOVEMENT DISORDERS . 37(8): 1593-1604. Number of citations: 44
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 11
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Rosas I, Morís G, Coto E, Blázquez-Estrada M, Suárez E, García-Fernández C, Martínez C, Herrera ID, Pérez-Oliveira S, Álvarez V, Menéndez-González M and Spain_PD consortium.
Smoking is associated with age at disease onset in Parkinson's disease
PARKINSONISM & RELATED DISORDERS . 97: 79-83. Number of citations: 3
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Vela-Desojo L, Urso D, Osuna-Lopez M and Hoenicka J.
Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review
Journal of Clinical Medicine . 11(6): . Number of citations: 1
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Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient
EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442. Number of citations: 3
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Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Number of citations: 13