Publicacions
-
Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB and EFACTS study group.
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
LANCET NEUROLOGY . 20(5): 362-372. Nº de cites: 46
-
Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Nº de cites: 6
-
Civera-Tregon A, Dominguez-Brezosa L, Martínez-Valero P, Serrano C, Vallmitjana A, Benítez R, Hoenicka J, Satrústegui J and Palau F.
Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model
NEUROBIOLOGY OF DISEASE . 152: 105300-105300. Nº de cites: 14
-
de Andrés-Nogales F, Cruz E, Calleja MÁ, Delgado O, Gorgas MQ, Espín J, Mestre-Ferrándiz J, Palau F, Ancochea A, Arce R, Domínguez-Hernández R, Casado MÁ and FinMHU-MCDA Group.
A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study).
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 186-186. Nº de cites: 11
-
Díaz-Santiago E, Claros MG, Yahyaoui R, de Diego-Otero Y, Calvo R, Hoenicka J, Palau F, Ranea JAG and Perkins JR.
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks
Frontiers in Molecular Biosciences . 8: 635074-635074. Nº de cites: 4
-
Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J, Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M and International Parkinson’s Disease Genomics Consortium (IPDGC).
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
NATURE COMMUNICATIONS . 12(1): 2076-2076. Nº de cites: 8
-
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW and United Kingdom Brain Expression Consortium (UKBEC) and the International Parkins.
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
JAMA NEUROLOGY . 78(4): 464-472. Nº de cites: 93
-
Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de cites: 10
-
Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny T, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM and Lacro RV.
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
CLINICAL GENETICS . 99(4): 547-557. Nº de cites: 9
-
Batlle C, Calvo I, Iglesias V, J Lynch C, Gil-Garcia M, Serrano M and Ventura S.
MED15 prion-like domain forms a coiled-coil responsible for its amyloid conversion and propagation.
Communications Biology . 4(1): 414-414. Nº de cites: 8