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423 results

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Page 1
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H; International Working Group on Neurotransmitter related Disorders (iNTD); Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanović G, Fung CW. Keller M, et al. Among authors: mir p. J Inherit Metab Dis. 2021 Nov;44(6):1489-1502. doi: 10.1002/jimd.12416. Epub 2021 Aug 2. J Inherit Metab Dis. 2021. PMID: 34245036 Free article.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF; iNTD Registry Study Group; García-Cazorla A, Opladen T. Kuseyri Hübschmann O, et al. Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5. Nat Commun. 2021. PMID: 34545092 Free PMC article.
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K, López-Laso E; Spanish Segawa Disease Research group. Fernández-Ramos JA, et al. Parkinsonism Relat Disord. 2022 Jan;94:67-78. doi: 10.1016/j.parkreldis.2021.11.014. Epub 2021 Nov 25. Parkinsonism Relat Disord. 2022. PMID: 34890878 Free article.
Association of PICALM with Cognitive Impairment in Parkinson's Disease.
Periñán MT, Macías-García D, Labrador-Espinosa MÁ, Jesús S, Buiza-Rueda D, Adarmes-Gómez AD, Muñoz-Delgado L, Gómez-Garre P, Mir P. Periñán MT, et al. Among authors: mir p. Mov Disord. 2021 Jan;36(1):118-123. doi: 10.1002/mds.28283. Epub 2020 Sep 11. Mov Disord. 2021. PMID: 32914893
Combined Physiotherapy and Cognitive Behavioral Therapy for Functional Movement Disorders: A Randomized Clinical Trial.
Macías-García D, Méndez-Del Barrio M, Canal-Rivero M, Muñoz-Delgado L, Adarmes-Gómez A, Jesús S, Ojeda-Lepe E, Carrillo-García F, Palomar FJ, Gómez-Campos FJ, Martin-Rodriguez JF, Crespo-Facorro B, Ruiz-Veguilla M, Mir P. Macías-García D, et al. Among authors: mir p. JAMA Neurol. 2024 Sep 1;81(9):966-976. doi: 10.1001/jamaneurol.2024.2393. JAMA Neurol. 2024. PMID: 39102249 Clinical Trial.
Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort.
Jesús S, Labrador-Espinosa MA, Adarmes AD, Méndel-Del Barrio C, Martínez-Castrillo JC, Alonso-Cánovas A, Sánchez Alonso P, Novo-Ponte S, Alonso-Losada MG, López Ariztegui N, Segundo Rodríguez JC, Morales MI, Gastón I, Lacruz Bescos F, Clavero Ibarra P, Kulisevsky J, Pagonabarraga J, Pascual-Sedano B, Martínez-Martín P, Santos-García D, Mir P; COPPADIS Study Group. Jesús S, et al. Among authors: mir p. Sci Rep. 2020 Oct 9;10(1):16893. doi: 10.1038/s41598-020-73756-z. Sci Rep. 2020. PMID: 33037247 Free PMC article.
Constipation Predicts Cognitive Decline in Parkinson's Disease: Results from the COPPADIS Cohort at 2-Year Follow-up and Comparison with a Control Group.
Santos García D, García Roca L, de Deus Fonticoba T, Cores Bartolomé C, Naya Ríos L, Canfield H, Paz González JM, Martínez Miró C, Jesús S, Aguilar M, Pastor P, Planellas L, Cosgaya M, García Caldentey J, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Gómez Mayordomo V, Nogueira V, Puente V, Dotor García-Soto J, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Carrillo Padilla F, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Kulisevsky J, Blázquez Estrada M, Seijo M, Rúiz Martínez J, Valero C, Kurtis M, de Fábregues O, González Ardura J, Alonso Redondo R, Ordás C, López Díaz L LM, McAfee D, Martinez-Martin P, Mir P; COPPADIS Study Group. Santos García D, et al. Among authors: mir p. J Parkinsons Dis. 2022;12(1):315-331. doi: 10.3233/JPD-212868. J Parkinsons Dis. 2022. PMID: 34602501
423 results