Roser Urreizti

hospital sant joan de déu

H指数:22

被引数:2,366

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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

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

SLC31A1相关的发育性癫痫性脑病的临床与分子特征：13例新病例的启示

Brain Communications

IF4.5

2025-09-010

Natalia Juliá-Palacios; Gerard Muñoz-Pujol; Reza Maroofian; Aida M Bertoli-Avella; Marta Gómez-Chiari; Jordi Muchart-López; Abraham J Paredes-Fuentes; Mar O’Callaghan; Irene S Machado-Casas; Ingrid Cristian; Jennifer Morrison; Angels Garcia-Cazorla; Anna Codina; Mohammad Miryounesi; Emir Zonic; Peter Bauer; Huma Cheema; Muhammad Nadeem Anjum; Nouriya Al-Sannaa; Marwa Abd Elmaksoud; Faroug Ababneh; Sahar Alijanpour; Seyed Hassan Tonekaboni; Afshin Fayazi; Maria Urbaniak; Uxía Barba; Janet Hoenicka; Francesc Palau; Henry Houlden; Juan Darío Ortigoza-Escobar; Antonia Ribes; Carlos Santos-Ocaña; Millie Tyler; Patrick Gaffney; Christopher J Carroll; Frederic Tort; Klaas J Wierenga; Bryn D Webb; Rafael Artuch; Heidy Baide-Mairena; Roser Urreizti

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG

HUMAN MUTATION

IF3.7

2024-10-030

SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

NATURE COMMUNICATIONS

IF15.7

2024-06-252

OAAI

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

扩大TRAF7-Related心脏，面部和数字异常的表型谱与发育迟缓: 11例新病例报告和文献复习

PEDIATRIC NEUROLOGY

IF2.1

2024-06-010

PRE

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

大型Leber遗传性视神经病变谱系中新的病理突变的鉴定和表征

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-04-062

OAAI

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-03-282

PRE

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

GEMIN5突变与辅酶Q10缺乏症相关: 治疗后的长期随访

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-02-058

Cascajo-Almenara, Marivi V.; Julia-Palacios, Natalia.; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M.; Garcia-Diaz, Elena; Oliva, Clara; O'Callaghan, Maria del Mar; Paredes-Fuentes, Abraham J.; Moreno-Lozano, Pedro J.; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I.; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R.; Rajan, Deepa S.; Navas, Placido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael

Genetic landscape of pediatric acute liver failure of indeterminate origin

HEPATOLOGY

IF15.8

2023-11-168

OAAI

Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

线粒体疾病的实验室检测: 用于诊断和随访的生物标志物

CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

IF5.5

2023-01-246

PRE

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Leigh综合征是PTCD3缺乏症的主要临床特征

BRAIN PATHOLOGY

IF6.2

2022-11-305

OAAI

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Schaaf-yang综合征病理生理学的进展: 从床边到截短的MAGEL2的亚细胞分析

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-09-075

OAAI

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

NATURE COMMUNICATIONS

IF15.7

2021-05-0729

OAAI

Kour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan; Pandey, Udai Bhan

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

ACTA NEUROPATHOLOGICA

IF9.3

2020-10-0523

OAAI

Garcia-Cazorla, Angels; Verdura, Edgard; Julia-Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas-Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schluter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; Ruiz, Montserrat; Rodriguez-Palmero, Agusti; Fourcade, Stephane; Cogne, Benjamin; Besnard, Thomas; Vincent, Marie; Bezieau, Stephane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch, Rafael; Cousin, Margot A.; Pujol, Aurora

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

与TRAF7种系变异相关的表型谱和转录组谱

GENETICS IN MEDICINE

IF6.2

2020-07-0124

OAAI

Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T.

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-02-1022

OAAI

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients (vol 28, 64, 2020)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-04-122

OAAI

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

EUROPEAN JOURNAL OF HUMAN GENETICS