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H

Henry Houlden

UCL Queen Square Institute of Neurology
H指数:120
被引数:6.4万
浏览量:0

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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
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases
European Journal of Human Genetics
IF4.6
2026-07-280
OA
Aleš Maver; Katja Lohmann; Lena-Marie Urbanczyk; Astri Arnesen; Ivo Barić; Peter Bauer; Kailash P. Bhatia; Sylvia Boesch; Fran Borovečki; Norbert Brüggemann; Zih-Hua Fang; Heinz Gabriel; Tobias B. Haack; Henry Houlden; Milena Janković; Erik-Jan Kamsteeg; Michelangelo Mancuso; Deborah Mascalzoni; Maria Judit Molnar; Alexander Münchau; Kornelia Neveling; Ivana Novaković; Borut Peterlin; Ludger Schols; Nika Schuermans; Katie Shiels; Marc Sturm; Rachel Taylor; Marina A. J. Tijssen; Lisenka E. L. M. Vissers; Victoria Williams; Holm Graessner
Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesicles

增强突触传递：12个SNAREpin复合体是快速释放重组突触小泡所必需的

Science Advances
IF12.5
2026-07-010
OA
Manindra Bera; Atrouli Chatterjee; Amit Koikkarah Aji; Aniruddha Panda; R. Venkat K. Sundaram; Jeff Coleman; Reza Maroofian; Vincenzo Salpietro; Abhijith Radhakrishnan; Sudhanshu Gautam; Kirill Grushin; Matthieu Caruel; Henry Houlden; Kallol Gupta; Sathish Ramakrishnan; Frederic Pincet; James E. Rothman
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy

COXFA4L2上调在COXFA4相关 Leigh样脑病中维持残余细胞色素c氧化酶活性

Nature Communications
IF15.7
2026-05-300
OA
Micol Falabella; Sandra Lopez Calcerrada; Jana Aref; Jiaze Gao; William L. Macken; Chiara Pizzamiglio; Renata Kabiljo; Anna Lucia Francavilla; Pauline Gaignard; Antoine Pouzet; Jonathan Levy; Giulia Barcia; Jamie K. Leighton; Efstathia Chronopoulou; Germaine Pierre; Riza Köksal Özgül; Ali Dursun; Rebecca Halligan; Helen Mundy; Javeria Raza Alvi; Tipu Sultan; William James Craigen; Lisa Emrick; Jill A. Rosenfeld; Gehad Elmakkawy; JiHye Kim; Joseph J. Gleeson; Aboulfazl Rad; Gabriela Oprea; Maqbool Hussain; Khalil Ur Rehman; Sadia Riaz; Robert W. Taylor; Vincent Procaccio; Maha S. Zaki; Erika Fernandez-Vizarra; Ciro Leonardo Pierri; Michael G. Hanna; Henry Houlden; Reza Maroofian; Cristina Ugalde; Jan-Willem Taanman; Robert D. S. Pitceathly
Clinical prognostic indicators in multiple system atrophy

多系统萎缩的临床预后指标

Brain
IF11.7
2026-05-070
OA
Yee Yen Goh; Viorica Chelban; Nirosen Vijiaratnam; Christine Girges; Manmohan Sandhu; Riona Fumi; Patrick W Cullinane; Rahema Mohammad; Michele T Hu; James B Rowe; Nicola Pavese; Neil Archibald; Christopher Kobylecki; Thomas Foltynie; Huw R Morris; Tom Warner; Zane Jaunmuktane; Henry Houlden
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
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies

DRD1驱动的婴儿期肌张力障碍：构建GPCR受体病的机制导向框架

Brain
IF11.7
2026-04-090
PRE
Gülsüm Kayhan; Ryosuke Tany; Reza Maroofian; Esra Serdaroğlu; Eon Kurumiya; Duy Phuoc Tran; Hideko Wakasugi-Masuho; Mirja Thomsen; Kamran Salayev; Rauan Kaiyrzhanov; Saadat Badalova; Ulviyya Guliyeva; Adel Kareem; Peter Bauer; Giovanni Zifarelli; Henry Houlden; Katja Lohmann; Akio Kitao; M Fatih Mulayim; Ikuo Masuho
The LRRK2 G2385R Exonic Variant: A Potential Genetic Disease Modifier of Multiple System Atrophy?

LRRK2 G2385R外显子变异：可能是多系统萎缩的潜在遗传性疾病修饰因子？

Movement Disorders
IF7.6
2026-02-090
PRE
Nesrine Kouki MD; Anne Pavy-Le Traon MD, PhD; Viorica Chelban MD, PhD; Florian Chanquoy MSc; Margherita Fabbri MD, PhD; David Bendetowicz MD, PhD; Henry Houlden MD, PhD; Lucia V. Schottlaender MD, PhD; Olivier Rascol MD, PhD; Alexandra Foubert-Samier MD, PhD; Wassilios G. Meissner MD, PhD
Mixed-effects additive Bayesian networks for the assessment of ruptured intracranial aneurysms: Insights from multicenter data

混合效应加性贝叶斯网络在破裂颅内动脉瘤评估中的应用：多中心数据的启示

Computers in Biology and Medicine
IF6.3
2025-12-230
OAAI
Matteo Delucchi; Philippe Bijlenga; Sandrine Morel; Reinhard Furrer; Isabel C. Hostettler; Mark K. Bakker; Romain Bourcier; Antti Lindgren; Svenja Maschke; Oliver Bozinov; Henry Houlden; David Werring; Ynte M. Ruigrok; Maria Wostrack; Bernhard Meyer; Marian Christoph Neidert; Sven Hirsch; Georg R. Spinner
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
Primary Brain Calcification: An International Consensus on Nomenclature, Diagnosis, Evaluation, and Management

原发性脑钙化：关于命名、诊断、评估和管理的国际共识

MOVEMENT DISORDERS
IF7.6
2025-12-010
PRE
Luo, Wei; Cen, Zhidong; Koek, Huiberdina; Carecchio, Miryam; Hozumi, Isao; Chen, Wan-Jin; Batla, Amit; Balck, Alexander; Magrinelli, Francesca; Yang, Dehao; Cheng, Xuewen; Westenberger, Ana; Kakita, Akiyoshi; Chen, Liam; Lambert, Christian; Liu, Jing-Yu; Keller, Annika; De Oliveira, Joao Ricardo Mendes; Xiong, Zhi-Qi; Houlden, Henry; Bhatia, Kailash P.; Klein, Christine; Nicolas, Gael
Neurodevelopmental Disease-causing Variants in Choline Kinase CHKA Gene Couple Phosphatidylcholine Synthesis to Oxidative Stress Damage and Disease Etiology

神经发育性疾病致病变异在胆碱激酶CHKA基因中，将磷脂酰胆碱合成与氧化应激损伤及疾病病因相耦合。

Journal of Biological Chemistry
IF3.9
2025-11-250
OAAI
Mahtab Tavasoli; Mariam Alkandari; Gabriel Dorighello; Michael McPhee; Neale D. Ridgway; Kathy Isaac; Stanislav Sokolenko; Reza Maroofian; Anju Shukla; Maha S. Zaki; Henry Houlden; Christopher R. McMaster
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

希腊遗传性痉挛性截瘫的遗传景观

Clinical Genetics
IF2.3
2025-11-010
OAAI
Koutsis, Georgios; Chelban, Viorica; Kartanou, Chrisoula; Kontogeorgiou, Zoi; Koniari, Chrysoula; Ragazos, Nikolaos; Voudommatis, Charalampos; Zhelcheska, Kristina; Lynch, David S.; Maroofian, Reza; Barkhordari, Ehsan; Mohammad, Rahema; Zaganas, Ioannis; Drakos, Minas; Xiromerisiou, Georgia; Dardiotis, Efthymios; Stefanis, Leonidas; Panas, Marios; Houlden, Henry; Karadima, Georgia
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
Large-scale genetic characterization of Parkinson’s disease in the African and African admixed populations

大规模帕金森病在非洲和非洲混血人群中的遗传特征研究

Brain
IF11.7
2025-10-080
OAAI
Fulya Akçimen; Kimberly Paquette; Peter Wild Crea; Kathryn Step; Emily Waldo; Mathew J Koretsky; Paula Saffie-Awad; Charles Achoru; Funmilola Taiwo; Simon Ozomma; Gerald Onwuegbuzie; Marzieh Khani; Spencer Grant; Lukman Owolabi; Chiamaka Okereke; Olajumoke Oshinaike; Emmanuel Iwuozo; Suleyman Can Akerman; Paul Suhwan Lee; Shyngle Oyakhire; Nosakhare Osemwegie; Kensuke Daida; Sani Abubakar; Adedunni Olusanya; Mariam Isayan; Christiane Alvarez; Rami Traurig; Adebimpe Ogunmodede; Sarah Samuel; Mary B Makarious; Fadimatu Sa’ad; Rashidat Olanigan; Kristin Levine; Ewere Marie Ogbimi; Dan Vitale; Francis Odiase; Francis Ojini; Olanike Odeniyi; Zih-Hua Fang; Nkechi Obianozie; Deborah A Hall; Ernest Nwazor; Tao Xie; Francesca Nwaokorie; Mahesh Padmanaban; Paul Nwani; Ejaz A Shamim; Alero Nnama; David Standaert; Morenikeji Komolafe; Marissa Dean; Godwin Osaigbovo; Elizabeth Disbrow; Ismaila Ishola; Ashley Rawls; Frank Imarhiagbe; Shivika Chandra; Cyril Erameh; Vanessa Hinson; Naomi Louie; Ahmed Idowu; J Solle; Scott A Norris; Abdullahi Ibrahim; Camilla Kilbane; Gauthaman Sukumar; Lisa M Shulman; Daniel Ezuduemoih; Julia Staisch; Sarah Breaux; Clifton Dalgard; Erin R Foster; Abiodun Bello; Andrew Ameri; Raquel Real; Erica Ikwenu; Huw R Morris; Roosevelt Anyanwu; Erin Furr Stimming; Kimberley Billingsley; Wemimo Alaofin; Pilar Alvarez Jerez; Osigwe Agabi; Dena G Hernandez; Rufus Akinyemi; Sampath Arepalli; Laksh Malik; Raymond Owolabi; Yakub Nyandaiti; Hampton L Leonard; Kolawole Wahab; Oladunni Abiodun; Carlos F Hernandez; Fatima Abdulai; Hirotaka Iwaki; Soraya Bardien; Christine Klein; John Hardy; Henry Houlden; Kamalini Ghosh Galvelis; Mike A Nalls; Nabila Dahodwala; Whitley Aamodt; Emily Hill; Alberto Espay; Stewart Factor; Chantale Branson; Cornelis Blauwendraat; Andrew B Singleton; Oluwadamilola Ojo; Lana M Chahine; Njideka Okubadejo; Sara Bandres-Ciga; null
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects

EIPR1基因变异导致伴有内体-溶酶体和致密核心囊泡缺陷的神经发育障碍

Brain
IF11.7
2025-10-070
PRE
Saikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmüller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Simon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S Bonifacino

研究方向

暂未获取到该数据
R
Reza Maroofian
H 指数:40论文数:319被引数:5,857
S
Stéphanie Efthymiou
H 指数:34论文数:238被引数:4,486
J
John Hardy
H 指数:207论文数:1,883被引数:23.8万
M
Mary M. Reilly
H 指数:81论文数:849被引数:2.3万
N
Nicholas Wood
H 指数:139论文数:1.1万被引数:8.8万
M
Michael G. Hanna
H 指数:95论文数:1,628被引数:4.2万
K
Kailash P. Bhatia
H 指数:117论文数:1,643被引数:6.0万
M
Maha S. Zaki
H 指数:56论文数:371被引数:1.1万
V
Vincenzo Salpietro
H 指数:40论文数:198被引数:6,106
J
Janice L. Holton
H 指数:91论文数:419被引数:2.9万