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Belén Pérez‐Dueñas

CIBERER
H指数:44
被引数:5,738
浏览量:0

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Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review

脑深部电刺激术治疗单基因肌张力障碍症状疗效的系统评价

European Journal of Neurology
IF3.9
2026-01-160
OAAI
Elisabetta Indelicato; Beatriz Carmona-Hidalgo; Javier Quintero; Juan Darío Ortigoza Escobar; Anne Koy; András Salamon; Pawel Tacik; Laura Muñoz-Delgado; Giulia Giannini; Martin Reich; Alberto Albanese; Tobias Bäumer; Francisco Grandas; Robert Jech; Athanasios Leonardos; Pablo Mir; Belén Pérez-Dueñas; Javier Ricardo Perez-Sanchez; Francesc Valldeoriola; Ginevra Zanni; Marie Vidailhet; Rocío Rodríguez-López; Juan Antonio Blasco-Amaro; Carola Reinhard; Sylvia Boesch; the European Reference Network for Rare Neurological Diseases (ERN-RND)
A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant

一例由HNF4A变异引起的非典型范可尼肾小管病变综合征伴高胰岛素血症性低血糖的病例

Case Reports in Nephrology and Dialysis
IF0.9
2026-01-010
OA
Garriga-Edo, Sarai; Peris-Serra, Lydia; Duro, Hector Rios; Giralt, Marina; Diaz-Troyano, Noelia; Ferrer, Roser; Mate, Maria Antolin; Duenas, Belen Perez; Clemente, Maria
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱：剪接位点变异的重要性

Movement Disorders
IF7.6
2025-11-070
OAAI
Ana Westenberger; Edgard Verdura; Mandy Radefeldt; Leslie E. Sanderson; Kornelia Tripolszki; Anna Marcé-Grau; Ana Cazurro-Gutiérrez; Anita Nikoncuk; Rebecca Herzog; Ruslan Al-Ali; Mariana Ferreira; Ligia S. Almeida; Tainá Regina Damaceno Silveira; Suliman Khan; Raphael Doyle Maia; Péter Klivényi; András Salamon; Volkan Baltaci; Asli Subasioglu; Jeanette Prada-Arismendy; Goran Čuturilo; Sebastian Loens; Vera Tadic; Isabelle Maystadt; Deniz Karadurmus; Barbara Leube; Jonathan De Winter; Alice Monticelli; Liesbeth De Waele; Jonathan Baets; Mateja Vinkšel; Aleš Maver; Lorena Tschopp; Gabriela Ziegler; Ana Sanguinetti; Katja Lohmann; Tahsin Stefan Barakat; Peter Bauer; Belén Perez-Dueñas; Aida M. Bertoli-Avella
Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

儿童和青少年ε- sarcoglycan 肌阵挛性肌张力障碍的深部脑刺激可导致运动功能和生命质量的持续改善

Movement Disorders
IF7.6
2025-08-010
OAAI
Ainara Salazar-Villacorta MD; Ana Cazurro-Gutiérrez MSc; Lucy Dougherty-de Miguel MD; Julia Ferrero-Turrión MD; Anna Marcé-Grau PhD; Marta Folch-Benito MD; Álvaro Lucero-Garófano MSc; Alfons Macaya MD, PhD; Antonio Moreno-Galdó MD, PhD; Maria I. Vanegas MD, PhD; Marta Correa-Vela MD, PhD; María Victoria González MD, PhD; Gemma Español-Martín MD; Martha Loredo; Ignacio Delgado MD; Esther Toro-Tamargo MD; Margarita Figueroa MD; Dolores Vilas MD, PhD; Manel Tardáguila MD; Jorge Muñoz MD; Lourdes Ispierto MD, PhD; Ramiro Álvarez MD; Agustí Bescós MD, PhD; Belén Pérez-Dueñas MD, PhD
Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children

婴儿和幼儿帕金森病-肌张力障碍量表的开发与初步验证

Movement Disorders
IF7.6
2025-05-130
OAAI
Roser Pons MD; Toni S. Pearson MD; Belen Perez-Dueñas MD; Angels Garcia-Cazorla MD; Manju A. Kurian MD; Zoi Dalivigka MD; Vasiliki Zouvelou MD; Chrysa Outsika PT; Eleftheria Kokkinou MD; Maria Sigatullina-Bondarenko MD; Alejandra Darling MD; Maria del Mar O'Callaghan MD; Robert Spaull MD; Dora B.D. Steel MD; Evdokia Salamou MD; Maria João Forjaz PhD; Carmen Rodriguez-Blazquez PhD
IAPRD new consensus classification of myoclonus

IAPRD肌阵挛的新共识分类

PARKINSONISM & RELATED DISORDERS
IF3.4
2025-03-011
PRE
Latorre, Anna; van der Veen, S.; Pena, Ashley; Truong, Daniel; Erro, Roberto; Frucht, Steven; Ganos, Christos; Hallett, Mark; Perez-Duenas, Belen; Rossi, Malco; Roze, Emmanuel; Vidailhet, Marie; Koning-Tijssen, Marina AJ. de; Caviness, John N.
Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
2025-01-310
PRE
De Francesch, Valeria; Cazurro-Gutierrez, Ana; Timmers, Elze R.; Espanol-Martin, Gemma; Ferrero-Turrion, Julia; Gomez-Andres, David; Marce-Grau, Anna; Dougherty-de Miguel, Lucia; Gonzalez, Victoria; Moreno-Galdo, Antonio; Tijssen, Marina A. J.; Perez-Duenas, Belen
Natural history of SGCE-associated myoclonus dystonia in children and adolescents
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
2024-12-161
OA
De Francesch, Valeria; Cazurro-Gutierrez, Ana; Timmers, Elze R.; Espanol-Martin, Gemma; Ferrero-Turrion, Julia; Gomez-Andres, David; Marce-Grau, Anna; Dougherty-de Miguel, Lucia; Gonzalez, Victoria; Moreno-Galdo, Antonio; Tijssen, Marina A. J.; Perez-Duenas, Belen
Response to Mortimer et al. Clinical and molecular profiling in GNAO1 permits phenotype-genotype correlation
MOVEMENT DISORDERS
IF7.6
2024-11-160
PRE
Lasa-Aranzasti, Amaia; Solis, Gonzalo P.; Katanaev, Vladimir L.; Perez-Duenas, Belen
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation
MOVEMENT DISORDERS
IF7.6
2024-06-162
OA
Lasa-Aranzasti, Amaia; Larasati, Yonika A.; Cardoso, Juliana da Silva; Solis, Gonzalo P.; Koval, Alexey; Cazurro-Gutierrez, Ana; Ortigoza-Escobar, Juan Dario; Miranda, Maria Concepcion; De la Casa-Fages, Beatriz; Moreno-Galdo, Antonio; Tizzano, Eduardo F.; Gomez-Andres, David; Verdura, Edgard; Katanaev, Vladimir L.; Perez-Duenas, Belen
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-08-311
OAAI
Klopstock, Thomas; Mercimek-Andrews, Saadet; Jurecka, Agnieszka; Wood, Patricia; Cwyl, Maciej; Klucken, Angelika; Lopez, Antonio; Scalise, Roberta; Valle, Andrea; Mollet, Fatemeh; Perez-Duenas, Belen; Skowronska, Marta; Chroscinska-Krawczyk, Magdalena; Escolar, Maria Luisa; Wade, Anna; Rintell, David
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

罕见疾病患者外显子组测序后癌症易感基因的次要和偶然发现的临床和心理意义

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-11-296
PRE
Carrasco, Estela; Lopez-Fernandez, Adria; Codina-Sola, Marta; Valenzuela, Irene; Cueto-Gonzalez, Am; Villacampa, Guillermo; Navarro, Victor; Torres-Esquius, Sara; Palau, Dolors; Cruellas, Mara; Torres, Maite; Perez-Duenas, Belen; Abuli, Anna; Diez, Orland; Sabado-Alvarez, Constantino; Garcia-Arumi, Elena; Tizzano, Eduardo F.; Moreno, Lucas; Balmana, Judith
16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency
PARKINSONISM & RELATED DISORDERS
IF3.4
2022-10-015
PRE
Lasa-Aranzasti, Amaia; Cazurro-Gutierrez, Ana; Bescos, Agustin; Gonzalez, Victoria; Ispierto, Lourdes; Tardaguila, Manel; Valenzuela, Irene; Plaja, Alberto; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Perez-Duenas, Belen
Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2022-09-054
OAAI
Pata, Silvia; Flores-Rojas, Katherine; Gil, Angel; Lopez-Laso, Eduardo; Marti-Sanchez, Laura; Baide-Mairena, Heydi; Perez-Duenas, Belen; Gil-Campos, Mercedes
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders

复杂的儿童期发作的多动性运动障碍的遗传景观

MOVEMENT DISORDERS
IF7.6
2022-08-2511
OA
Perez-Duenas, Belen; Gorman, Kathleen; Marce-Grau, Anna; Ortigoza-Escobar, Juan D.; Macaya, Alfons; Danti, Federica R.; Barwick, Katy; Papandreou, Apostolos; Ng, Joanne; Meyer, Esther; Mohammad, Shekeeb S.; Smith, Martin; Muntoni, Francesco; Munot, Pinki; Uusimaa, Johanna; Vieira, Paivi; Sheridan, Eammon; Guerrini, Renzo; Cobben, Jan; Yilmaz, Sanem; De Grandis, Elisa; Dale, Russell C.; Pons, Roser; Peall, Kathryn J.; Leuzzi, Vincenzo; Kurian, Manju A.
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3
HUMAN MOLECULAR GENETICS
IF3.2
2022-06-2912
OAAI
Martinez-Rubio, Dolores; Rodriguez-Prieto, Angela; Sancho, Paula; Navarro-Gonzalez, Carmen; Gorria-Redondo, Nerea; Miquel-Leal, Javier; Marco-Marin, Clara; Jenkins, Alison; Soriano-Navarro, Mario; Hernandez, Alberto; Perez-Duenas, Belen; Fazzari, Pietro; Aguilera-Albesa, Sergio; Espinos, Carmen
Early recognition of SGCE-myoclonus-dystonia in children
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
2022-06-205
PRE
Correa-Vela, Marta; Carvalho, Joao; Ferrero-Turrion, Julia; Cazurro-Gutierrez, Ana; Vanegas, Maria; Gonzalez, Victoria; Alvarez, Ramiro; Marce-Grau, Anna; Moreno, Antonio; Macaya-Ruiz, Alfons; Perez-Duenas, Belen
Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders
EPIGENOMICS
IF2.6
2022-05-048
OA
Lee, Sunwoo; Ochoa, Eguzkine; Barwick, Katy; Cif, Laura; Rodger, Fay; Docquier, France; Perez-Duenas, Belen; Clark, Graeme; Martin, Ezequiel; Banka, Siddharth; Kurian, Manju A.; Maher, Eamonn R.
Genetic diagnosis of basal ganglia disease in childhood
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
2022-01-050
PRE
Baide-Mairena, Heidy; Marti-Sanchez, Laura; Marce-Grau, Anna; Cazurro-Gutierrez, Ana; Sanchez-Montanez, Angel; Delgado, Ignacio; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Garcia-Arumi, Elena; Perez-Duenas, Belen
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum
MOVEMENT DISORDERS
IF7.6
2021-02-1910
PREAI
Masnada, Silvia; Martinelli, Diego; Correa-Vela, Marta; Agolini, Emanuele; Baide-Mairena, Heidy; Marce-Grau, Anna; Parazzini, Cecilia; Veggiotti, Pierangelo; Perez-Duenas, Belen; Tonduti, Davide

研究方向

暂未获取到该数据
R
Rafael Artuch
H 指数:57论文数:411被引数:1.1万
M
Mercedes Serrano
H 指数:32论文数:144被引数:2,664
À
Àngels García‐Cazorla
H 指数:40论文数:673被引数:6,553
A
Anna Marcé‐Grau
H 指数:21论文数:52被引数:1,163
J
Juan Darío Ortigoza‐Escobar
H 指数:23论文数:113被引数:1,666
A
Aída Ormazábal
H 指数:32论文数:114被引数:2,711
A
Alfons Macaya
H 指数:50论文数:254被引数:1.1万
M
Manju A. Kurian
H 指数:64论文数:304被引数:1.4万
A
Ana Cazurro‐Gutiérrez
H 指数:6论文数:17被引数:110
M
Marta Correa‐Vela
H 指数:9论文数:14被引数:227