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Stéphanie Efthymiou

UCL Queen Square Institute of Neurology
H指数:34
被引数:4,640

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Partial Loss of FITM2 Function Causes Hereditary Spastic Paraplegia

<i>FITM2</i>功能部分缺失导致遗传性痉挛性截瘫

Human Mutation
IF3.7
2026-10-230
OA
Ainara Salazar-Villacorta; Laura M. Bond; Leehyeon Kim; Katherine Anagnostopoulou; Annarita Scardamaglia; Eugenia Filippakopoulou; Athina Ververi; Stephanie Efthymiou; Argirios Dinopoulos; David Murphy; Chrisoula Kartanou; Dimitrios M. Vrachnos; Theodoros Loupis; Perilikis Makrythanasis; Leonidas Stefanis; Georgia Karadima; Georgios Koutsis; Marios Kaliakatsos; Henry Houlden; Tobias C. Walther; Robert V. Farese
KCNA2 ‐Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment

<scp> <i>KCNA2</i> </scp> 相关遗传性痉挛性截瘫痷：临床特征及靶向治疗依据

Movement Disorders
IF7.6
2026-10-070
PRE
Christian M. Boßelmann; Martin Vyhnalek; Zuzana Blichova; Ludmila Novotna; Anna Uhrova Meszarosova; Petra Havránková; Elena Kuster; Robert J. Lauerer; Ulrike B.S. Hedrich; Hang Lyu; Mayke Oosterloo; Michael Alber; Ludger Schöls; Karen Müller‐Schlüter; Almut Turid Bischoff; Thomas Klopstock; Georgios Koutsis; Georgia Karadima; Stephanie Efthymiou; Henry Houlden; Ainara Salazar‐Villacorta; Colin A. Ellis; Anna Scheper; Dieter Gläser; Tobias B. Haack; Matias Wagner; Michael Zech; Konrad Platzer; Pasquale Striano; Steffen Syrbe; Rebecca Schüle; Holger Lerche
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia

双等位基因ATG9B变异定义了一种与小脑共济失调相关的自噬相关神经发育障碍

Genes
IF2.8
2026-06-050
OA
Seval Kılıç; Kerem Esmen; Jean-Loup Méreaux; Ayşe Miray Oto; Tansu Bilge Kose; Melike Sever-Bahcekapili; Emine Eren-Koçak; Şeyda Demir; A. Semra Hız; Erum Afzal; Zahra Firoozfar; Gökhan Karakülah; H. Alper Bagriyanik; Léna Guillot-Noel; Giulia Coarelli; Henry Houlden; Stephanie Efthymiou; Alexandra Durr; Mehmet Öztürk; M. Kasim Diril
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱

Nature Communications
IF15.7
2026-04-150
OAAI
Francesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
Neurological manifestations and genotype–phenotype correlations in NDUFAF6-associated mitochondrial disease

NDUFAF6相关线粒体疾病的神经系统表现和基因型-表型相关性

Brain Communications
IF4.5
2026-03-180
OA
Alessandra Torraco; Charlotte L Alston; Giulia Barcia; Daniela Verrigni; Teresa Rizza; Michela Di Nottia; Anastasia Altobelli; Diego Martinelli; Daria Diodato; Stephanie Efthymiou; Melis Kose; Yamna Kriouile; Albert Z Lim; Silvia Morlino; Barbara Siri; Nebal Waill Saadi; Antonio Novelli; Henry Houlden; Carlo Dionisi-Vici; Robert McFarland; Agnès Rötig; Enrico Bertini; Robert W Taylor; Rosalba Carrozzo
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

COX18基因的双等位基因变异会导致一种主要表现为周围神经病的线粒体疾病。

BRAIN
IF11.7
2025-12-010
OA
Armirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa A.; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; Seneca, Sara; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael G.; Houlden, Henry; Lunn, Michael P.; Reilly, Mary M.; Rasic, Vedrana Milic; Jordanova, Albena
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异通过损害突触功能导致神经发育综合征

Nature Genetics
IF29
2025-10-220
OAAI
Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements

GOT2缺乏症的全面基因型、表型及生化表征：一种伴有癫痫和异常运动的进行性神经发育障碍

Genetics in Medicine
IF6.2
2025-09-230
PREAI
Hannah M. German; Maha S. Zaki; Muhammad A. Usmani; Irem Karagoz; Stephanie Efthymiou; Mohamed S. Abdel-Hamid; Haya Abdelhafez Arabiyat; Amama Ghaffar; Mohsin Shahzad; Hans van Bokhoven; Zubair M. Ahmed; Omid Yaghini; Neda Hosseini; Maede Majidinezhad; Shahryar Alavi; Marjolein Bosma; Melissa H. Broeks; Dilşad Türdoğan; Mohnish Suri; Laiz Laura de Godoy; Nanda M. Verhoeven-Duif; Sheikh Riazuddin; Joseph G. Gleeson; Cesar Alves; Judith J.M. Jans; Saima Riazuddin; Henry Houlden; Reza Maroofian
Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

SCN3B基因编码Nav通道亚基β3的双等位基因截断变异可导致伴有或不伴有癫痫和共济失调的神经发育表型。

Annals of Neurology
IF7.7
2025-08-230
OAAI
Nathan Routledge; Maxime Lammens; Reza Maroofian; Bakht Beland; David Murphy; Asif Mir; Zia Ullah; Javeria Reza Alvi; Tipu Sultan; Stephanie Efthymiou; Frank Bosmans; Henry Houlden
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

隐性PI4K2A功能丧失导致一种伴有显著口舌运动障碍的发育性、癫痫性及运动障碍性脑病

Movement Disorders
IF7.6
2025-08-070
OAAI
Reza Maroofian PhD; Juan Darío Ortigoza-Escobar MD, PhD; Pooja Rohilla PhD; Javeria Raza Alvi MD; Aziza M. Mushiba MD; Naif A.M. Almontashiri MD, PhD; Stephanie Efthymiou PhD; Tipu Sultan MD; Tamas Balla MD, PhD; Henry Houlden MD, PhD
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway

双等位基因的LGI1和ADAM23变异通过LGI1-ADAM22/23通路导致海马癫痫性脑病。

BRAIN
IF11.7
2025-08-011
OA
Hirano, Yoko; Miyazaki, Yuri; Ishikawa, Daisuke; Inahashi, Hiroki; Al-Hassnan, Zuhair Nasser; Zifarelli, Giovanni; Bauer, Peter; Alvi, Javeria Raza; Sultan, Tipu; Thompson, Michelle L.; Sezer, Abdullah; Konuskan, Bahadir; Hajir, Razan S.; El-Hattab, Ayman W.; Efthymiou, Stephanie; Ishida, Ayuki; Yokoi, Norihiko; Kornau, Hans-Christian; Schmitz, Dietmar; Pruess, Harald; Houlden, Henry; Ikegaya, Yuji; Fukata, Yuko; Fukata, Masaki; Maroofian, Reza
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

DIAPH1的遗传性缺陷识别出由γ-actin调控的DNA双链断裂修复通路

NATURE COMMUNICATIONS
IF15.7
2025-05-140
OA
Woodward, Beth L.; Lahiri, Sudipta; Chauhan, Anoop S.; Garcia, Marcos Rios; Goodley, Lucy E.; Clarke, Thomas L.; Pal, Mohinder; Agathanggelou, Angelo; Jhujh, Satpal S.; Ganesh, Anil N.; Hollins, Fay M.; Deforie, Valentina Galassi; Maroofian, Reza; Efthymiou, Stephanie; Meinhardt, Andrea; Mathew, Christopher G.; Simpson, Michael A.; Mefford, Heather C.; Faqeih, Eissa A.; Rosenzweig, Sergio D.; Di Matteo, Gigliola; Cancrini, Caterina; Scardamaglia, Annarita; Shackley, Fiona; Davies, E. Graham; Ibrahim, Shahnaz; Arkwright, Peter D.; Zaki, Maha S.; Stankovic, Tatjana; Taylor, A. Malcolm R.; Mazur, Antonina J.; Di Donato, Nataliya; Houlden, Henry; Rothenberg, Eli; Stewart, Grant S.
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-02-010
OAAI
Buchert, Rebecca; Burkhalter, Martin D.; Huridou, Chrisovalantou; Sofan, Linda; Roser, Timo; Cremer, Kirsten; Alvi, Javeria Raza; Efthymiou, Stephanie; Froukh, Tawfiq; Gulieva, Sughra; Guliyeva, Ulviyya; Hamdallah, Moath; Holder-Espinasse, Muriel; Kaiyrzhanov, Rauan; Klingler, Doreen; Koko, Mahmoud; Matthies, Lars; Park, Joohyun; Sturm, Marc; Velic, Ana; Spranger, Stephanie; Sultan, Tipu; Engels, Hartmut; Lerche, Holger; Houlden, Henry; Pagnamenta, Alistair T.; Borggraefe, Ingo; Weber, Yvonne; Bonnen, Penelope E.; Maroofian, Reza; Riess, Olaf; Weber, Jonasz J.; Philipp, Melanie; Haack, Tobias B.
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

双等位基因NDUFA13变异导致神经发育表型，逐渐神经功能缺损

BRAIN COMMUNICATIONS
IF4.5
2024-12-170
OAAI
Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia

阐明中亚和高加索地区罕见的儿科神经系统疾病的基因组基础

NATURE GENETICS
IF31.8
2024-11-220
PRE
Kaiyrzhanov, Rauan; Zharkinbekova, Nazira; Guliyeva, Ulviyya; Ganieva, Manizha; Tavadyan, Zaruhi; Gachechiladze, Tamar; Salayev, Kamran; Guliyeva, Sughra; Isayan, Mariam; Kekenadze, Mariam; Sukhudyan, Biayna; Gevorgyan, Ani; Hakobyan, Artsruni; Ibadova, Rima; Tabatadze, Nazi; Kurua, Ekaterina; Shatirishvili, Teona; Yerkhojayeva, Nigara; Koneev, Kairgali; Zhumakhanov, Dauren; Mukushev, Askhat; Jaxybayeva, Altynshash; Nauryzbayeva, Alissa; Isrofilov, Maksudjon; Badalova, Saadat; Zeyniyeva, Naila; Hajiyeva, Ilaha; Alakbarov, Leyla; Zeynalova, Aynur; Chelban, Viorica; Vandrovcova, Jana; Turchetti, Valentina; Murphy, David; Efthymiou, Stephanie; Alavi, Shahryar; Mohammad, Rahema; Tkemaladze, Tinatin; Shashkin, Chingiz; Tatishvili, Nana Nino; Beridze, Maia; Khachatryan, Samson G.; Melikishvili, Gia; Hardy, John; Maroofian, Reza; Houlden, Henry
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country
BRAIN COMMUNICATIONS
IF4.5
2024-11-140
OAAI
Frezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro Jose; Record, Christopher J.; Wilson, Lindsay A.; Alves, Gustavo Maximiano; Dominik, Natalia; Efthymiou, Stephanie; Patel, Krutik; Vandrovcova, Jana; Mannikko, Roope; Pitceathly, Robert D. S.; Sobreira, Claudia Ferreira da Rosa; McFarland, Robert; Taylor, Robert W.; Houlden, Henry; Hanna, Michael G.; Reilly, Mary M.; Marques, Wilson

研究方向

暂未获取到该数据
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万
R
Reza Maroofian
H 指数:40论文数:319被引数:6,048
V
Vincenzo Salpietro
H 指数:40论文数:198被引数:6,210
T
Tipu Sultan
H 指数:21论文数:151被引数:2,014
F
Fowzan S. Alkuraya
H 指数:88论文数:819被引数:2.9万
J
Jana Vandrovcová
H 指数:45论文数:167被引数:9,498
M
Maha S. Zaki
H 指数:56论文数:372被引数:1.1万
M
Michael G. Hanna
H 指数:95论文数:1,628被引数:4.2万
S
Shazia Maqbool
H 指数:17论文数:75被引数:1,002
F
Fatima Rahman
H 指数:15论文数:54被引数:737