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A

A. Nascimento

newcastle university
H指数:39
被引数:4,948

个人简介

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荣誉奖项

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Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G

扩展COL6相关疾病的表型谱：COL6A3 c.7447A>G相关的运动神经病变样及神经肌病

Journal of Neuromuscular Diseases
IF3.4
2026-07-280
PRE
Rocio Nur Villar-Quiles; A. Reghan Foley; Corinne Metay; Rotem Orbach; Sandra Donkervoort; Beatrice Labella; Daniel Natera-de Benito; Andres Nascimento; Berta Estevez-Arias; Cecilia Jimenez-Mallebrera; Carlos Ortez; Cristina Domínguez-González; Alejandro Horga; Maria Itxaso Marti Carrera; Roberto Fernandez Torron; Sergei Kurbatov; Paulina Chausova; Aysylu Murtazina; Dmitrii Subbotin; Anna Kuchina; Rodrigo Frezzati; Alzira Carvalho; Anne Waschbisch; Valerie Allamand; Yaqun Zou; Pascale Richard; Carsten G Bönnemann; Tanya Stojkovic
Caregiver-reported Patient Experiences with Duchenne Muscular Dystrophy: Qualitative In-trial Interviews 1 Year After Delandistrogene Moxeparvovec in the Pivotal EMBARK Trial

照护者报告的杜氏肌营养不良症患者体验：关键性EMBARK试验中Delandistrogene Moxeparvovec给药1年后的定性试验内访谈

Neurology and Therapy
IF4.8
2025-11-030
OAAI
Ivana Audhya; Alise B. Nacson; Katherine Gooch; Bonita Basnyat; Christina Slota; Susan Martin; Alex Murphy; Claire J. Lansdall; Teofil Ciobanu; Andres Nascimento; Aravindhan Veerapandiyan
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

扩展遗传性痉挛性截瘫痷的范围：脑瘫中双等位基因SPAST变异的模拟

Annals of Clinical and Translational Neurology
IF3.9
2025-09-260
OAAI
Gregorio A. Nolasco; Mònica Roldán; Yalda Jamshidi; Ioannis Georvasilis; Rocío Jadraque Rodríguez; Reza Boostani; Ali Shoeibi; Lluís Armengol; Anna Codina; Ehsan Ghayoor Karimiani; Cristina Hernando-Davalillo; Loreto Martorell; María Luisa Ramírez Almaraz; Jordi Muchart; Carlos Ortez; Andrés Nascimento; Roser Urreizti; Daniel Natera-de Benito; Mercedes Serrano
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project

西班牙脊髓性肌萎缩症的真实世界数据：来自CuidAME项目超过500名个体的见解

Journal of Neuromuscular Diseases
IF3.4
2025-07-280
PRE
Cristina Puig-Ram; Sonia Segovia; Rocio Garcia-Uzquiano; Nancy Carolina Ñungo Garzón; Karolina Aragon-Gawinska; Mar García Romero; Jesica María Expósito-Escudero; Laura Carrera-García; Mercedes López-Lobato; Carmen Paradas; Laura González Mera; Mireia Álvarez Molinero; David Gómez Andrés; Esther Toro; Joaquín Alejandro Fernández Ramos; Maria Antonia Grimalt; Laura Toledo Bravo de Laguna; Desire González Barrios; Eduardo F Tizzano; Maria Grazia Cattinari; Julita Medina; Rocío Calvo Medina; Francina Munell; Javier Sotoca; Eduardo Martínez-Salcedo; Antonio Moreno Escribano; Mónica Povedano Panadés; Miguel A. Fernández-García; Inmaculada Pitarch-Castellano; Juan F. Vázquez-Costa; Daniel Natera-de Benito; Andres Nascimento
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

2型脊髓性肌萎缩症患者上肢运动功能：自然病史及疗法影响

JOURNAL OF NEUROLOGY
IF4.6
2025-04-090
PRE
Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Garzon, Nancy Carolina Nungo; Pareja, Ana; Fernandez-Garcia, Miguel A.; Ortez, Carlos; Medina, Julita; Martinez-Salcedo, Eduardo; Urbano, Mario; Grimalt, Maria Antonia; Munell, Francina; Garcia-Campos, Oscar; Roca, Sandra; Moya, Obdulia; Estevez-Arias, Berta; Balsells, Sol; Frongia, Anna Lia; Borras, Ariadna; Puig-Ram, Cristina; Garcia Romero, Mar; Calvo, Rocio; Lopez-Lobato, Mercedes; Pitarch-Castellano, Inmaculada; Natera-de Benito, Daniel; Nascimento, Andres
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort

TK2-deficiency的临床和分子谱: 一个大型巴西队列

SCIENTIFIC REPORTS
IF3.9
2025-03-150
OAAI
Moreno, Cristiane Araujo Martins; Artilheiro, Mariana Cunha; Fonseca, Alulin Tacio Quadros Santos Monteiro; da Silva, Andre Macedo Serafim; Fernandes, Tatiana Ribeiro; Camelo, Clara Gontijo; Paiva, Michelle Abdo; di Pace, Filipe Tupinamba; Pessoa, Andre Luiz Santos; Braga, Vitor Lucas Lopes; Mariano, Tamiris Carneiro; de Paula Estephan, Eduardo; da Penha Morita, Maria; Covaleski, Anna Paula Paranhos Miranda; van der Linden, Vanessa; Tomaselli, Pedro Jose; Scarpellini, Giuliano Roberto; Gurgel-Giannetti, Juliana; Sobrinho, Livia Maria Ferreira; de Oliveira, Thais Martins; Mendonca, Rodrigo Holanda; Lucas, Elizabeth Lemos Silveira; Cruzeiro, Marcelo Maroco; Junior, Carlos Wagner Pereira; Junior, Wilson Marques; Sobreira, Claudia Ferreira da Rosa; Oliveira, Acary Sousa Bulle; Kok, Fernando; Hirano, Michio; Nascimento-Osorio, Andres; Schlesinger, David; Zanoteli, Edmar
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2025-02-130
OAAI
Della Marina, Adela; Koutsoulidou, Andrie; Natera-de Benito, Daniel; Tykocinski, Lars-Oliver; Tomazou, Marios; Georgiou, Kristia; Laner, Andreas; Koelbel, Heike; Nascimento, Andres; Ortez, Carlos; Abicht, Angela; Thakur, Basant Kumar; Lochmuller, Hanns; Phylactou, Leonidas A.; Ruck, Tobias; Schara-Schmidt, Ulrike; Kale, Dipali; Hentschel, Andreas; Roos, Andreas
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development
FEBS JOURNAL
IF4.2
2025-01-160
OA
Gunasekaran, Mekala; Littel, Hannah R.; Wells, Natalya M.; Turner, Johnnie; Campos, Gloriana; Venigalla, Sree; Estrella, Elicia A.; Ghosh, Partha S.; Daugherty, Audrey L.; Stafki, Seth A.; Kunkel, Louis M.; Foley, A. Reghan; Donkervoort, Sandra; Bonnemann, Carsten G.; de Laguna, Laura Toledo-Bravo; Nascimento, Andres; Natera-de Benito, Daniel; Draper, Isabelle; Bruels, Christine C.; Pacak, Christina A.; Kang, Peter B.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (27 Sept, 10.1038/s41431-024-01699-4, 2024)
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-12-100
PRE
Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Benito, Daniel Natera-de
Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint
SCIENTIFIC REPORTS
IF3.9
2024-11-291
OAAI
Servais, Laurent; Strijbos, Paul; Poleur, Margaux; Mirea, Andrada; Butoianu, Nina; Sansone, Valeria A.; Vuillerot, Carole; Schara-Schmidt, Ulrike; Scoto, Mariacristina; Seferian, Andreea M.; Previtali, Stefano C.; Tulinius, Mar; Nascimento, Andres; Furlong, Pat; Singh, Teji; Dreghici, Roxana Donisa; Goemans, Nathalie; Mercuri, Eugenio; Straub, Volker; Ormazabal, Maitea Guridi; Braid, Jessica; Muntoni, Francesco; Tricot, Alexis; Annoussamy, Melanie; Eggenspieler, Damien
AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial

AAV基因治疗杜氏肌营养不良症: EMBARK 3期随机试验

NATURE MEDICINE
IF50
2024-10-093
OAAI
Mendell, Jerry R.; Muntoni, Francesco; McDonald, Craig M.; Mercuri, Eugenio M.; Ciafaloni, Emma; Komaki, Hirofumi; Leon-Astudillo, Carmen; Nascimento, Andres; Proud, Crystal; Schara-Schmidt, Ulrike; Veerapandiyan, Aravindhan; Zaidman, Craig M.; Guridi, Maitea; Murphy, Alexander P.; Reid, Carol; Wandel, Christoph; Asher, Damon R.; Darton, Eddie; Mason, Stefanie; Potter, Rachael A.; Singh, Teji; Zhang, Wenfei; Fontoura, Paulo; Elkins, Jacob S.; Rodino-Klapac, Louise R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

大量儿科人群中的脑脊液同型香草酸和5-羟吲哚乙酸; 参考区间的建立以及疾病和药物的影响

CLINICAL CHEMISTRY
IF6.3
2024-09-270
PRE
Rodriguez-Gonzalez, Helena; Ormazabal, Aida; Casado, Mercedes; Arias, Angela Y.; Oliva, Clara; Barranco-Altirriba, Maria; Casadevall, Ricard; Garcia-Cuyas, Francesc; Nascimento, Andres; Ortez, Carlos; Natera-de Benito, Daniel; Armangue, Thais; O'Callaghan, Maria M.; Julia-Palacios, Natalia; Darling, Alejandra; Ortigoza-Escobar, Juan Dario; Fons, Carmen; Garcia-Cazorla, Angels; Perera-Lluna, Alexandre; Artuch, Rafael
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-09-272
PRE
Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
IF7.5
2024-09-010
OAAI
Llanso, Laura; Segarra-Casas, Alba; Dominguez-Gonzalez, Cristina; Malfatti, Edoardo; Kapetanovic, Solange; Rodriguez-Santiago, Benjamin; de la Calle, Oscar; Blanco, Rosa; Dobrescu, Amelia; Nascimento-Osorio, Andres; Paipa, Andres; Hernandez-Lain, Aurelio; Jou, Cristina; Mariscal, Anais; Gonzalez-Mera, Laura; Arteche, Ana; Lleixa, Cinta; Caballero-Avila, Marta; Carbayo, Alvaro; Vesperinas, Ana; Querol, Luis; Gallardo, Eduard; Olive, Montse
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
PEDIATRIC NEUROLOGY
IF2.1
2024-08-010
PRE
Natera-deBenito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Ribeiro, Joana Afonso; Fernandez-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estevez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmuller, Hanns; Selcen, Duygu
Clinical and Genetic Analysis of Patients With TK2 Deficiency
NEUROLOGY-GENETICS
IF3.7
2024-04-014
OAAI
Ceballos, Francisco; Serrano-Lorenzo, Pablo; Bermejo-Guerrero, Laura; Blazquez, Alberto; Quesada-Espinosa, Juan F.; Amigo, Jorge; Minguez, Pablo; Ayuso, Carmen; Garcia-Arumi, Elena; Muelas, Nuria; Jaijo, Teresa; Nascimento, Andres; Galan-Rodriguez, Beatriz; Paradas, Carmen; Arenas, Joaquin; Carracedo, Angel; Marti, Ramon; Martin, Miguel A.; Dominguez-Gonzalez, Cristina

研究方向

暂未获取到该数据
C
C. Ortez
H 指数:28论文数:206被引数:3,016
D
Daniel Natera‐de Benito
H 指数:22论文数:191被引数:1,769
C
Cristina Jou
H 指数:28论文数:163被引数:2,365
C
C. Jimenez‐Mallebrera
H 指数:38论文数:194被引数:4,468
L
Laura Carrera‐García
H 指数:14论文数:78被引数:664
J
J. Expósito
H 指数:14论文数:82被引数:577
A
Anna Codina
H 指数:21论文数:125被引数:6,707
F
Francesc Palau
H 指数:48论文数:284被引数:1.0万
R
Rafael Artuch
H 指数:57论文数:411被引数:1.1万
J
Julio Montoya
H 指数:49论文数:251被引数:1.1万