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R

Roser Pons

agiasophiachildrenshospital
H指数:32
被引数:3,528

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Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

酪氨酸羟化酶（TH）缺乏症的诊断与治疗共识指南

Journal of Inherited Metabolic Disease
IF3.8
2025-11-100
OAAI
Mariya Sigatullina Bondarenko; Oya Kuseyri Hübschmann; Jan Kulhánek; Roser Pons; Toni S. Pearson; Kathrin Jeltsch; Ivana Badnjarevic; Tessa Wassenberg; Gabriella Horvath; Galina Stevanovic; Manju A. Kurian; Elisenda Cortès-Saladelafont; Agathe Roubertie; Vincenzo Leuzzi; Mariarita Bertoldi; Mario Mastrangelo; Birgit Assmann; THD Guidelines Working Group; Angeles Garcia-Cazorla; Thomas Opladen
Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations

结节性硬化症在希腊：一项关于临床特征和罕见表现的全国队列研究

European Journal of Paediatric Neurology
IF2.3
2025-10-010
PRE
Spanou, Maria; Skoutelis, Vasileios; Dimitriadis, Zacharias; Kokkinou, Eleftheria; Kosma, Konstantina; Vorgia, Pelagia; Roka, Kleoniki; Niotakis, Georgios; Pelekoudai, Polyxeni; Sidiraj, Christina; Kyriazi, Maria; Tsimakidi, Chrysanthi; Kapetanakis, Minas; Mprantzos, Thomas; Mitrakos, Anastasios; Mouskou, Stella; Dragoumi, Pinelopi; Voudris, Konstantinos; Kotsalis, Charalambos; Pavlou, Evangelos; Tzetis, Maria; Pons, Roser; Vartzelis, George; Papavasileiou, Antigone; Evangeliou, Athanasios; Youroukos, Sotirios; Vlahakos, Demetrios; Zafeiriou, Dimitrios; Dinopoulos, Argirios
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
Brain
IF11.7
2025-08-140
PRE
Vicente Quiroz; Julian E Alecu; Umar Zubair; Katerina Bernardi; Zainab Zaman; Joshua Rong; Amy Tam; Avaneesh Kunta; Habibah A P Agianda; Nicole Battaglia; Henri J D Schmidt; Dario Resch; Noah Wyman; Lindsey M Vogt; Wafa Bani Uraba; Leonie F Becker; Kavitha Kothur; Deepak Gill; Bernardita Suarez; Javiera I Jofre; Carolina Arias; Claudia Castiglioni; Patricia Dumke da Silva Möller; Andre Felipe Pinto Duarte; Alexander Eggers-Lisboa; Loreto Ríos-Pohl; Magdalena Gonzalez-Ubilla; Chinmay Chaudhari; Ainara Salazar-Villacorta; Xiaojuan Tian; Lifang Dai; Changhong Ding; Mina Zamani; Pardis Nourbakhsh; Gholamreza Shariati; Tamara Pringsheim; Wei Kang Lim; Emanuele Bartolini; Maria Stamelou; Poonam Bhatia; Michael C Kruer; Soaham Desai; Mary Iype; Ján Necpál; David Crosiers; Hannah F Jones; Javier Ricardo Perez-Sanchez; Esra Demir Unal; Nuria Lopez-Ariztegui; Sruthi Kola; Wei-Sheng Lin; Alia Hassan Mansour; Chahnez Charfi Triki; Emilio Fernandez-Alvarez; Emmanuel Roze; Jitendra Kumar Sahu; Asif Doja; Nardo Nardocci; Davide Caputo; Anne Koy; Sanjay Bhate; Marios Kaliakatsos; Robert Robinson; Jane Hassell; Roser Pons; Alexander Munchau; Luca Soliani; Alonso Zea-Vera; Laura Tochen; Hugo Morales-Briceño; Russell C Dale; Alissa D’Gama; Tobias Loddenkemper; Phillip L Pearl; Shekeeb S Mohammad; Manju A Kurian; Carolina Gorodetsky; Juan Darío Ortigoza-Escobar; Luca Schierbaum; Kathryn Yang; Darius Ebrahimi-Fakhari
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
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023)
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-08-011
OAAI
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
MOLECULAR GENETICS AND METABOLISM
IF3.5
2023-07-0111
OAAI
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
NEUROLOGY
IF8.5
2023-06-066
OAAI
Mochel, Fanny; Gras, Domitille; Luton, Marie-Pierre; Nizou, Manon; Giovannini, Donatella; Delattre, Caroline; Aubart, Melodie; Barth, Magalie; De Saint-Martin, Anne; Doummar, Diane; Essid, Nouha; Garros, Alexa; Le Camus, Caroline Hachon; Hoebeke, Celia; Tich, Sylvie Nguyen The; Perivier, Maximilien; Rivera, Serge; Rolland, Anne; Roubertie, Agathe; Sarret, Catherine; Sevin, Caroline; Ville, Dorothee; Sitbon, Marc; Costa, Jean-Marc; Pons, Roser; Garcia-Cazorla, Angels; Vuillaumier, Sandrine; Petit, Vincent C.; Boespflug-Tanguy, Odile; De Vivo, Darryl
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
IF3.6
2023-02-144
PRE
Veltra, Danai; Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M. M.; Svingou, Maria; Mitrakos, Anastasios; Kosma, Konstantina; Tsoutsou, Irene; Makrythanasis, Periklis; Theodorou, Virginia; Katsalouli, Marina; Vorgia, Pelagia; Niotakis, Georgios; Vartzelis, Georgios; Dinopoulos, Argirios; Evangeliou, Athanasios; Mouskou, Stella; Korona, Anastasia; Mastroyianni, Sotiria; Papavasiliou, Antigone; Tzetis, Maria; Pons, Roser; Traeger-Synodinos, Joanne; Sofocleous, Christalena
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.
The Emerging Role of Combined Brain/Heart Magnetic Resonance Imaging for the Evaluation of Brain/Heart Interaction in Heart Failure
JOURNAL OF CLINICAL MEDICINE
IF2.9
2022-07-119
OAAI
Markousis-Mavrogenis, George; Noutsias, Michel; Rigopoulos, Angelos G.; Giannakopoulou, Aikaterini; Gatzonis, Stergios; Pons, Roser Maria; Papavasiliou, Antigoni; Vartela, Vasiliki; Bonou, Maria; Kolovou, Genovefa; Aggeli, Constantina; Christidi, Aikaterini; Bacopoulou, Flora; Tousoulis, Dimitris; Mavrogeni, Sophie
Natalizumab therapy in patients with pediatric-onset multiple sclerosis in Greece: clinical and immunological insights of time-long administration and future directions-a single-center retrospective observational study
NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY
IF3.1
2022-04-266
PRE
Gontika, Maria; Skarlis, Charalampos; Markoglou, Nikolaos; Tzanetakos, Dimitrios; Vakrakou, Aglaia; Toulas, Panagiotis; Koutsis, George; Evangelopoulos, Maria-Eleptheria; Pons, Roser; Dardiotis, Efthymios; Chrousos, George; Dalakas, Marinos; Stefanis, Leonidas; Anagnostouli, Maria
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
GENETICS IN MEDICINE
IF6.2
2022-03-0113
OA
Johannesen, Katrine M.; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A.; Perez-Palma, Eduardo; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie Therese; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju A.; Ambegaonkar, Gautam; Firth, Helen; Sanchis-Juan, Alba; Deprez, Marie; Jansen, Katrien; De Waele, Liesbeth; Briltra, Eva H.; Verbeek, Nienke E.; van Kempen, Marjan; Fazeli, Walid; Striano, Pasquale; Zara, Federico; Visser, Gerhard; Braakman, Hilde M. H.; Haeusler, Martin; Elbracht, Miriam; Vaher, Ulvi; Smol, Thomas; Lemke, Johannes R.; Platzer, Konrad; Kennedy, Joanna; Klein, Karl Martin; Au, Ping Yee Billie; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin K.; Dinopoulos, Argirios; Campbell, Arthur J.; Lal, Dennis; Lederer, Damien; Liao, Vivian W. Y.; Ahring, Philip K.; Moller, Rikke S.; Gardella, Elena
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
NATURE COMMUNICATIONS
IF15.7
2021-09-2025
OAAI
Huebschmann, Oya Kuseyri; Horvath, Gabriella; Cortes-Saladelafont, Elisenda; Yildiz, Yilmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios, I; Kulhanek, Jan; Kurian, Manju A.; Lopez-Laso, Eduardo; Oppeboen, Mari; Kilavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Buergi, Sabine; Porta, Francesco; Honzik, Tomas; Santer, Rene; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Huebschmann, Daniel; Garbade, Sven F.; Garcia-Cazorla, Angeles; Opladen, Thomas

研究方向

暂未获取到该数据
M
Manju A. Kurian
H 指数:64论文数:304被引数:1.4万
À
Àngels García‐Cazorla
H 指数:40论文数:673被引数:6,553
R
Rafael Artuch
H 指数:57论文数:411被引数:1.1万
T
Thomas Opladen
H 指数:34论文数:167被引数:3,947
K
Kathrin Jeltsch
H 指数:16论文数:70被引数:1,129
T
Tessa Wassenberg
H 指数:16论文数:35被引数:1,020
T
Toni S. Pearson
H 指数:23论文数:72被引数:2,724
O
Oya Kuseyri Hübschmann
H 指数:11论文数:28被引数:477
L
Leonidas Stefanis
H 指数:66论文数:403被引数:2.0万
V
Vincenzo Leuzzi
H 指数:54论文数:339被引数:1.1万