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M

Mathieu Anheim

institut de genetique et de biologie moleculaire et cellulaire
H指数:59
被引数:1.6万

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Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

SCA27B型共济失调的纵向进展、指标、年龄依赖性及严重程度修饰因子：一项219例患者的多中心研究

EBioMedicine
IF10.8
2026-08-010
PRE
Traschutz, Andreas; Hilgers, Ralf-Dieter; Erdlenbruch, Friedrich; Depienne, Christel; Wirth, Thomas; Delvallee, Clarisse; Numann, Astrid; Ashton, Catherine; Pellerin, David; Indelicato, Elisabetta; Heindl, Felix; Renaud, Mathilde; Borsche, Max; Grobe-Einsler, Marcus; Faber, Jennifer; Klockgether, Thomas; Schols, Ludger; Brais, Bernard; Anheim, Mathieu; Timmann, Dagmar; Synofzik, Matthis
No role of intronic expansions in HSF1 for essential tremor in Europe

欧洲Essential tremor与HSF1内含子扩张无关

Brain
IF11.7
2026-02-100
PRE
Jean-Loup Méreaux; Thomas Wirth; Claire-Sophie Davoine; Clarisse Delvallée; Elsa Leitão; Friedrich Erdlenbruch; Guillaume Cogan; Nicole Jeschonneck; Aurélie Méneret; David Grabli; Claire Ewenczyk; Jean-Baptiste Lamouche; Jean Muller; Nicolas Dondaine; Sabine Kaya; Stephan Klebe; Christine Tranchant; Christel Depienne; Alexis Brice; Mathieu Anheim; Alexandra Durr; for the NS-Park Essential Tremor Working Group
Author Correction: Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

作者更正：GBA1变异的分类及其对帕金森病的影响：一项基于计算机的评分分析

npj Parkinson's Disease
IF8.2
2025-11-210
OAAI
Aymeric Lanore; Christelle Tesson; Aymeric Basset; François-Xavier Lejeune; Guillaume Cogan; Graziella Mangone; Sara Sambin; Nathalie Bertille; Mathieu Anheim; Isabelle Arnulf; Solène Ansquer; Jean-Philippe Brandel; Christine Brefel-Courbon; Luc Defebvre; Sophie Drapier; Alexandre Eusebsio; Margherita Fabbri; Caroline Giordana; Elodie Hainque; Stephane Lehericy; Ana Marques; Caroline Moreau; Elena Moro; Fabienne Ory; Anne-Sophie Rolland; Stéphane Thobois; Marie Vidailhet; David Devos; Louise-Laure Mariani; Suzanne Lesage; Alexis Brice; Jean-Christophe Corvol
Effect on Dyskinesia of the Early Combination of Amantadine to Levodopa-Therapy in Parkinson's Disease: A Randomized, Placebo-Controlled Study (PREMANDYSK)

早期将金刚烷胺与左旋多巴疗法联合应用于帕金森病对运动障碍的影响：一项随机、安慰剂对照研究（PREMANDYSK）

MOVEMENT DISORDERS
IF7.6
2025-11-010
OAAI
Rascol, Olivier; Ory-Magne, Fabienne; Meissner, Wassilios G.; Maltete, David; Defebvre, Luc; Azulay, Jean-philippe; Thobois, Stephane; Houeto, Jean-luc; Thalamas, Claire; Sommet, Agnes; Geny, Christian; Damier, Philippe; Anheim, Mathieu; Marques, Ana; Viallet, Francois; Giroud, Maurice; Lefaucheur, Romain; Costentin, Guillaume; Spampinato, Umberto; Samier-foubert, Alexandra; Carriere, Nicolas; Mutez, Eugenie; Mariani, Louise-laure; Eusebio, Alexandre; Prange, Stephane; Benatru, Isabelle; Charif, Mahmoud; Brefel-courbon, Christine; Fabbri, Margherita; Galitzky, Monique; Rousseau, Vanessa; Saubion, Amandine; Catala, Helene; Ferreira, Joaquim J.; Burn, David J.; Corvol, Jean-christophe; PREMANDYSK Study Grp
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

RRP12 变体与常染色体隐性脑钙化相关

Movement Disorders
IF7.6
2025-10-080
OAAI
Edoardo Monfrini MD, PhD; Paola Rinchetti PhD; Mathieu Anheim MD, PhD; Anna Klingseisen PhD; Ouhaid Lagha-Boukbiza MD; Zhidong Cen MD, PhD; Dehao Yang MD, PhD; Xinhui Chen MD; Reza Maroofian PhD; Henry Houlden MD, PhD, FRCP, FRCPath, FMedSci; Gioia Cappelletti PhD; Anne-Claire Richard BS; Olivier Quenez PhD; Camilo Toro MD; Steven J. Frucht MD; Francesco Lotti PhD; Wei Luo MD, PhD; David Hunt MD, PhD; Gael Nicolas MD, PhD; Giulietta M. Riboldi MD, PhD
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia

重复中断的类型和位置作为影响 Friedreich 共济失调疾病严重程度和扩展尺寸的决定因素

Genetics in Medicine
IF6.2
2025-09-230
PRE
Mehdi Benkirane; Cecilia Marelli; Ariane Choumert; Cyril Goizet; Olivier Patat; Claire Ewenczyk; Mathieu Anheim; André Mégarbané; Lise Larrieu; Cyril Charlin; Fabienne Ory Magne; Annabelle Chaussenot; Mélanie Fradin; Claire Guissart; Morgane Pointaux; Mireille Cossée; Marie-Claire Vincent; Anne Bergougnoux; Clément Hersent; Corinne Bareil; Agathe Roubertie; Frédérique Fluchère; Mathilde Renaud; Laurent Kremer; Christine Tranchant; Shahram Attarian; Sylvie Odent; Vincent Laugel; Ulrike Walther-Louvier; Beatrice Desnous; Eric Bieth; Isabelle Husson; Jean Phillipe Azulay; François Rivier; Bérénice Doray; Alexandra Durr; Safa Aouinti; Nicolas Molinari; Michel Koenig
A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异的临床与基因型-表型分析

The American Journal of Human Genetics
IF0
2025-09-080
PRE
Jordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

GBA1变异的分类及其对帕金森病的影响：基于计算得分的分析

npj Parkinson's Disease
IF0
2025-08-020
OA
Aymeric Lanore; Christelle Tesson; Aymeric Basset; François-Xavier Lejeune; Guillaume Cogan; Graziella Mangone; Sara Sambin; Nathalie Bertille; Mathieu Anheim; Isabelle Arnulf; Solène Ansquer; Jean-Philippe Brandel; Christine Brefel-Courbon; Luc Defebvre; Sophie Drapier; Alexandre Eusebsio; Margherita Fabbri; Caroline Giordana; Elodie Hainque; Stephane Lehericy; Ana Marques; Caroline Moreau; Elena Moro; Fabienne Ory; Anne-Sophie Rolland; Stéphane Thobois; Marie Vidailhet; David Devos; Louise-Laure Mariani; Suzanne Lesage; Alexis Brice; Jean-Christophe Corvol
The Two Faces of Pediatric SCA2

SCA2儿科的两种面相

European Journal of Neurology
IF3.9
2025-07-310
OAAI
Nicolas Rive Le Gouard; Maissa G. Bah; Giulia Coarelli; Anna Heinzmann; Anne-Laure Fauret; Jean-Madeleine de Sainte-Agathe; Cécile Cazeneuve; Anna Gerasimenko; Domitille Gras; Yline Capri; Mathilde Renaud; Bernard Brais; Cecile Grenenko; Alice Masurel; Patrick Berquin; Florence Jobic; Julia Métreau; Kumaran Deiva; Alexandra Afenjar; Victor Gravrand; Annie Lannuzel; Mathieu Anheim; Tobias Geis; Ute Hehr; Jennifer Madan Cohen; Béatrice Desnous; Anneke J. A. Kievit; Nadia Bahi-buisson; Diana Rodriguez; Florence Renaldo; Claude Cances; David Devos; Chloé Angelini; Cyril Goizet; Claire Ewenczyk; Alexandra Durr; Cyril Mignot
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series

RFC1和FGF14重复扩展的三个欧洲患者晚期小脑共济失调：一个病例系列

Journal of Neurology
IF4.6
2025-07-100
PRE
Armand Hocquel; David Pellerin; Jean loup Méreaux; Vincent Huin; Marios Hadjivassiliou; Guillemette Clément; Felipe Villa; Salomé Puisieux; Solène Frismand; Marion Wandzel; Virginie Roth; Anna Wissocq; Thomas Wirth; Matt C. Danzi; Isabelle Quadrio; Stephan Zuchner; Laetitia Lambert; Fanny Mochel; Matthis Synofzik; Mathieu Anheim; Henry Houlden; Alexis Brice; Carine Pourié; Bernard Brais; Céline Bonnet; Alexandra Durr; Mathilde Renaud
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病性变异相关的神经表型谱：一项综合性病例系列研究

Annals of Neurology
IF7.7
2025-07-010
OAAI
Sarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD
Exploring the link between personality dimensions and non-motor fluctuations in Parkinson's disease

探索人格维度与非运动波动在帕金森病中的关联

Journal of Parkinson’s Disease
IF0
2025-06-270
OA
Mathilde Boussac; Florent Faggianelli; Estelle Harroch; Alexandre Eusebio; Margherita Fabbri; Fabienne Ory-Magne; Emeline Descamps; Olivier Rascol; Chloé Laurencin; Ana-Raquel Marques; Mathieu Anheim; Bruno Giordana; Lucie Hopes; Caroline Moreau; Anne-Sophie Rolland; David Devos; David Maltête; Solène Ansquer; Elodie Hainque; Sophie Drapier; Jean-Philippe Brandel; Tiphaine Rouaud; Dominique Guehl; Bechir Jarraya; Mélissa Tir; Tatiana Witjas; Jean-Philippe Azulay; Christine Brefel-Courbon
Parkinson's Disease, Speech and Neurosurgery

帕金森病，言语和神经外科

religion brain behavior
IF2.7
2025-04-290
OAAI
Ollivier, Thomas; Pinto, Serge; Rolland, Anne-Sophie; Cailliau, Emeline; Touzet, Gustavo; Thobois, S.; Eusebio, A.; Hainque, E.; Rouaud, T.; Drapier, S.; Guehl, D.; Maltete, D.; Anheim, M.; Boukbiza, O. Lagha; Giordana, C.; Tir, M.; Hopes, L.; Hubsch, C.; Jarraya, B.; Marques, A.; Brefel, C.; Rascol, O.; Corvol, J. C.; Benatru, I.; Defebvre, Luc; Devos, David; Moreau, Caroline
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia

STARDEV研究：患有惊跳病/易惊综合征患者的神经发育轨迹和长期结局

MOVEMENT DISORDERS CLINICAL PRACTICE
IF2.7
2025-04-070
OAAI
Pina, Diane; Roubertie, Agathe; Spitz, Marie-Aude; Ravelli, Claudia; Bahi-Buisson, Nadia; Gheurbi, Farha; Buchy, Marion; Loppinet, Thomas; Chemaly-Perin, Nicole; Nougues, Marie-Christine; Heron, Benedicte; Lopez, Regis; Anheim, Mathieu; Fradin, Melanie; Cances, Claude; Avez-Couturier, Justine; Dalmon, Fabienne; Lesca, Gaetan; Des Portes, Vincent; Lion-Francois, Laurence

研究方向

暂未获取到该数据
C
Christine Tranchant
H 指数:68论文数:554被引数:1.6万
A
Alexandra Dürr
H 指数:119论文数:860被引数:5.9万
A
Alexis Brice
H 指数:153论文数:1,192被引数:11.6万
T
Thomas Wirth
H 指数:25论文数:164被引数:1,906
M
Michel Kœnig
H 指数:47论文数:172被引数:9,949
P
Perrine Charles
H 指数:60论文数:200被引数:1.0万
E
Emmanuel Roze
H 指数:66论文数:460被引数:1.3万
C
Cyril Goizet
H 指数:65论文数:320被引数:1.3万
M
Matthis Synofzik
H 指数:77论文数:761被引数:2.2万
D
David Devos
H 指数:70论文数:436被引数:1.5万