Stephan Zuchner

Affiliations

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida.

Publications (63)

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Clinical genetics

Avec: Fabrizia Stregapede , Lorena Travaglini , Adriana P Rebelo , Vivian Pedigone Cintra , Emanuele Bellacchio , Luca Bosco , Paolo Alfieri , Stefano Pro , Stephan Zuchner , Enrico Bertini , Francesco Nicita

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Nature genetics

Avec: Andrea Cortese , Yi Zhu , Adriana P Rebelo , Sara Negri , Steve Courel , Lisa Abreu , Chelsea J Bacon , Yunhong Bai , Dana M Bis-Brewer , Enrico Bugiardini , Elena Buglo , Matt C Danzi , Shawna M E Feely , Alkyoni Athanasiou-Fragkouli , Nourelhoda A Haridy , Auteur inconnu , Rosario Isasi , Alaa Khan , Matilde Laurà , Stefania Magri , Menelaos Pipis , Chiara Pisciotta , Eric Powell , Alexander M Rossor , Paola Saveri , Janet E Sowden , Stefano Tozza , Jana Vandrovcova , Julia Dallman , Elena Grignani , Enrico Marchioni , Steven S Scherer , Beisha Tang , Zhiqiang Lin , Abdullah Al-Ajmi , Rebecca Schüle , Matthis Synofzik , Thierry Maisonobe , Tanya Stojkovic , Michaela Auer-Grumbach , Mohamed A Abdelhamed , Sherifa A Hamed , Ruxu Zhang , Fiore Manganelli , Lucio Santoro , Franco Taroni , Davide Pareyson , Henry Houlden , David N Herrmann , Mary M Reilly , Michael E Shy , R Grace Zhai , Stephan Zuchner

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.

Brain : a journal of neurology

Avec: Adriana P Rebelo , Andrea Cortese , Amit Abraham , Yael Eshed-Eisenbach , Gal Shner , Anna Vainshtein , Elena Buglo , Vladimir Camarena , Gabriel Gaidosh , Ramin Shiekhattar , Lisa Abreu , Steve Courel , Dennis K Burns , Yunhong Bai , Chelsea Bacon , Shawna M E Feely , Diana Castro , Elior Peles , Mary M Reilly , Michael E Shy , Stephan Zuchner

Intronic

medRxiv : the preprint server for health sciences

Avec: David Pellerin , Felix Heindl , Carlo Wilke , Matt C Danzi , Andreas Traschütz , Catherine Ashton , Marie-Josée Dicaire , Alexanne Cuillerier , Giulia Del Gobbo , Kym M Boycott , Jens Claassen , Dan Rujescu , Annette M Hartmann , Stephan Zuchner , Bernard Brais , Michael Strupp , Matthis Synofzik

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Human genomics

Avec: Nejat Mahdieh , Morteza Heidari , Zahra Rezaei , Ali Reza Tavasoli , Sareh Hosseinpour , Maryam Rasulinejad , Ali Zare Dehnavi , Masoud Ghahvechi Akbari , Reza Shervin Badv , Elahe Vafaei , Ali Mohebbi , Pouria Mohammadi , Seyyed Mohammad Mahdi Hosseiny , Reza Azizimalamiri , Ali Nikkhah , Elham Pourbakhtyaran , Mohammad Rohani , Narges Khanbanha , Sedigheh Nikbakht , Mojtaba Movahedinia , Parviz Karimi , Homa Ghabeli , Seyed Ahmad Hosseini , Fatemeh Sadat Rashidi , Masoud Garshasbi , Morteza Rezvani Kashani , Noor M Ghiasvand , Stephan Zuchner , Matthis Synofzik , Mahmoud Reza Ashrafi

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.

medRxiv : the preprint server for health sciences

Avec: Tanner D Jensen , Bohan Ni , Chloe Reuter , John E Gorzynski , Sarah Fazal , Devon E Bonner , Rachel Allison Ungar , Pagé C Goddard , Archana Natarajan Raja , Euan A Ashley , Jonathan A Bernstein , Stephan Zuchner , Auteur inconnu , Michael D Greicius , Stephen B Montgomery , Michael C Schatz , Matthew T Wheeler , Alexis Battle

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

European journal of neurology

Avec: Silvia Cipriani , Marta Guerrero-Valero , Stefano Tozza , Edward Zhao , Veith Vollmer , Danique Beijer , Matt Danzi , Cristina Rivellini , Dejan Lazarevic , Giovanni Battista Pipitone , Bianca Rose Grosz , Costanza Lamperti , Stefania Bianchi Marzoli , Paola Carrera , Marcella Devoto , Chiara Pisciotta , Davide Pareyson , Marina Kennerson , Stefano C Previtali , Stephan Zuchner , Steven S Scherer , Fiore Manganelli , Martin Bähler , Alessandra Bolino

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Brain : a journal of neurology

Avec: Tyler Rehbein , Tong Tong Wu , Simona Treidler , Davide Pareyson , Richard Lewis , Sabrina W Yum , Brett A McCray , Sindhu Ramchandren , Joshua Burns , Jun Li , Richard S Finkel , Steven S Scherer , Stephan Zuchner , Michael E Shy , Mary M Reilly , David N Herrmann

Deep Intronic

The New England journal of medicine

Avec: David Pellerin , Matt C Danzi , Carlo Wilke , Mathilde Renaud , Sarah Fazal , Marie-Josée Dicaire , Carolin K Scriba , Catherine Ashton , Christopher Yanick , Danique Beijer , Adriana Rebelo , Clarissa Rocca , Zane Jaunmuktane , Joshua A Sonnen , Roxanne Larivière , David Genís , Laura Molina Porcel , Karine Choquet , Rawan Sakalla , Sylvie Provost , Rebecca Robertson , Xavier Allard-Chamard , Martine Tétreault , Sarah J Reiling , Sara Nagy , Vikas Nishadham , Meera Purushottam , Seena Vengalil , Mainak Bardhan , Atchayaram Nalini , Zhongbo Chen , Jean Mathieu , Rami Massie , Colin H Chalk , Anne-Louise Lafontaine , François Evoy , Marie-France Rioux , Jiannis Ragoussis , Kym M Boycott , Marie-Pierre Dubé , Antoine Duquette , Henry Houlden , Gianina Ravenscroft , Nigel G Laing , Phillipa J Lamont , Mario A Saporta , Rebecca Schüle , Ludger Schöls , Roberta La Piana , Matthis Synofzik , Stephan Zuchner , Bernard Brais

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Scientific reports

Avec: Céline Bonnet , David Pellerin , Virginie Roth , Guillemette Clément , Marion Wandzel , Laëtitia Lambert , Solène Frismand , Marian Douarinou , Anais Grosset , Ines Bekkour , Frédéric Weber , Florent Girardier , Clément Robin , Stéphanie Cacciatore , Myriam Bronner , Carine Pourié , Natacha Dreumont , Salomé Puisieux , Pablo Iruzubieta , Marie-Josée Dicaire , François Evoy , Marie-France Rioux , Armand Hocquel , Roberta La Piana , Matthis Synofzik , Henry Houlden , Matt C Danzi , Stephan Zuchner , Bernard Brais , Mathilde Renaud

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

The Lancet. Neurology

Avec: Elisa Vegezzi , Hiroyuki Ishiura , D Cristopher Bragg , David Pellerin , Francesca Magrinelli , Riccardo Currò , Stefano Facchini , Arianna Tucci , John Hardy , Nutan Sharma , Matt C Danzi , Stephan Zuchner , Bernard Brais , Mary M Reilly , Shoji Tsuji , Henry Houlden , Andrea Cortese

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Nature communications

Avec: Matias Wagner , Daniel P S Osborn , Ina Gehweiler , Maike Nagel , Ulrike Ulmer , Somayeh Bakhtiari , Rim Amouri , Reza Boostani , Faycal Hentati , Maryam M Hockley , Benedikt Hölbling , Thomas Schwarzmayr , Ehsan Ghayoor Karimiani , Christoph Kernstock , Reza Maroofian , Wolfgang Müller-Felber , Ege Ozkan , Sergio Padilla-Lopez , Selina Reich , Jennifer Reichbauer , Hossein Darvish , Neda Shahmohammadibeni , Abbas Tafakhori , Katharina Vill , Stephan Zuchner , Michael C Kruer , Juliane Winkelmann , Yalda Jamshidi , Rebecca Schüle

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

American journal of human genetics

Avec: Mohammad Ali Farazi Fard , Adriana P Rebelo , Elena Buglo , Hamid Nemati , Hassan Dastsooz , Ina Gehweiler , Selina Reich , Jennifer Reichbauer , Beatriz Quintáns , Andrés Ordóñez-Ugalde , Andrea Cortese , Steve Courel , Lisa Abreu , Eric Powell , Matt C Danzi , Nicole B Martuscelli , Dana M Bis-Brewer , Feifei Tao , Fariba Zarei , Parham Habibzadeh , Majid Yavarian , Farzaneh Modarresi , Mohammad Silawi , Zahra Tabatabaei , Masoume Yousefi , Hamid Reza Farpour , Christoph Kessler , Elisabeth Mangold , Xenia Kobeleva , Ivailo Tournev , Teodora Chamova , Amelie J Mueller , Tobias B Haack , Mark Tarnopolsky , Ziv Gan-Or , Guy A Rouleau , Matthis Synofzik , María-Jesús Sobrido , Albena Jordanova , Rebecca Schüle , Stephan Zuchner , Mohammad Ali Faghihi

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.

European journal of neurology

Avec: Zhongbo Chen , Reza Maroofian , A Nazlı Başak , Leena Shingavi , Mert Karakaya , Stephanie Efthymiou , Emil K Gustavsson , Leyla Meier , Kiran Polavarapu , Seena Vengalil , Veeramani Preethish-Kumar , Bevinahalli N Nandeesh , Nalan Gökçe Güneş , Onur Akan , Fatma Candan , Bertold Schrank , Stephan Zuchner , David Murphy , Mahima Kapoor , Mina Ryten , Brunhilde Wirth , Mary M Reilly , Atchayaram Nalini , Henry Houlden , Payam Sarraf

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

The New England journal of medicine

Avec: Jack J Collier , Claire Guissart , Monika Oláhová , Souphatta Sasorith , Florence Piron-Prunier , Fumi Suomi , David Zhang , Nuria Martinez-Lopez , Nicolas Leboucq , Angela Bahr , Silvia Azzarello-Burri , Selina Reich , Ludger Schöls , Tuomo M Polvikoski , Pierre Meyer , Lise Larrieu , Andrew M Schaefer , Hessa S Alsaif , Suad Alyamani , Stephan Zuchner , Inês A Barbosa , Charu Deshpande , Angela Pyle , Anita Rauch , Matthis Synofzik , Fowzan S Alkuraya , François Rivier , Mina Ryten , Robert McFarland , Agnès Delahodde , Thomas G McWilliams , Michel Koenig , Robert W Taylor

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Adriana P Rebelo , Ariel Ruiz , Maike F Dohrn , Melanie Wayand , Amjad Farooq , Matt C Danzi , Danique Beijer , Brooke Aaron , Jana Vandrovcova , Henry Houlden , Leslie Matalonga , Lisa Abreu , Guy Rouleau , Mehrdad A Estiar , Liedewei Van de Vondel , Ziv Gan-Or , Jonathan Baets , Rebecca Schüle , Stephan Zuchner

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.

Brain : a journal of neurology

Avec: Adriana P Rebelo , Pedro J Tomaselli , Jessica Medina , Ying Wang , Maike F Dohrn , Eva Nyvltova , Matt C Danzi , Mark Garrett , Sean E Smith , Alan Pestronk , Chengcheng Li , Ariel Ruiz , Elizabeth Jacobs , Shawna M E Feely , Marcondes C França , Marcus V Gomes , Diogo F Santos , Surinder Kumar , David B Lombard , Mario Saporta , Siegfried Hekimi , Antoni Barrientos , Conrad Weihl , Michael E Shy , Wilson Marques , Stephan Zuchner

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.

American journal of medical genetics. Part A

Avec: Irman Forghani , Steven H Lang , Matthew J Rodier , Stephanie A Bivona , Auteur inconnu , Alejo A Morales , Stephan Zuchner , Guney Bademci , Mustafa Tekin

The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.

Clinical genetics

Avec: Chrisoula Kartanou , Alexandros Mitrousias , David Pellerin , Zoi Kontogeorgiou , Pablo Iruzubieta , Marie-Josée Dicaire , Matt C Danzi , Chrysoula Koniari , Konstantinos Athanassopoulos , Marios Panas , Leonidas Stefanis , Stephan Zuchner , Bernard Brais , Henry Houlden , Georgia Karadima , Georgios Koutsis

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.

Brain : a journal of neurology

Avec: Christopher J Record , Menelaos Pipis , Mariola Skorupinska , Julian Blake , Roy Poh , James M Polke , Kelly Eggleton , Tina Nanji , Stephan Zuchner , Andrea Cortese , Henry Houlden , Alexander M Rossor , Matilde Laura , Mary M Reilly

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

EBioMedicine

Avec: Pablo Iruzubieta , César Augusto Pinheiro Ferreira Alves , Aisha M Al Shamsi , Gehad ElGhazali , Maha S Zaki , Lorenzo Pinelli , Diego Lopergolo , Bernard P H Cho , Amy A Jolly , Amna Al Futaisi , Fatema Al-Amrani , Jessica Galli , Elisa Fazzi , Katarina Vulin , Francisco Barajas-Olmos , Holger Hengel , Bayan Mohammed Aljamal , Vahideh Nasr , Farhad Assarzadegan , Michele Ragno , Luigi Trojano , Naomi Meave Ojeda , Arman Çakar , Silvia Bianchi , Francesca Pescini , Anna Poggesi , Amal Al Tenalji , Majid Aziz , Rahema Mohammad , Aziza Chedrawi , Nicola De Stefano , Giovanni Zifarelli , Ludger Schöls , Tobias B Haack , Adriana Rebelo , Stephan Zuchner , Filiz Koc , Lyn R Griffiths , Lorena Orozco , Karla García Helmes , Meisam Babaei , Peter Bauer , Won Chan Jeong , Ehsan Ghayoor Karimiani , Miriam Schmidts , Joseph G Gleeson , Wendy K Chung , Fowzan Sami Alkuraya , Bita Shalbafan , Hugh S Markus , Henry Houlden , Reza Maroofian

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

American journal of medical genetics. Part A

Avec: Nicholas A Borja , Rory J Tinker , Stephanie A Bivona , Carson A Smith , Theodore Krijnse Locker , Samuela Fernandes , Auteur inconnu , John A Phillips , Justin Stoler , Herman Taylor , Stephan Zuchner , Mustafa Tekin

Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.

Stem cell research

Avec: Elizabeth H Jacobs , Jacquelyn Schatzman Raposo , Annarita Scardamaglia , Fowzan S Alkuraya , Shahriar Nafissi , Henry Houlden , Stephan Zuchner , Mario A Saporta

Prot2HG: a database of protein domains mapped to the human genome.

Database : the journal of biological databases and curation

Avec: David Stanek , Dana M Bis-Brewer , Cima Saghira , Matt C Danzi , Pavel Seeman , Petra Lassuthova , Stephan Zuchner

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.

European journal of neurology

Avec: Andrea Cortese , Riccardo Currò , Riccardo Ronco , Julian Blake , Alex M Rossor , Enrico Bugiardini , Matilde Laurà , Tom Warner , Tarek Yousry , Roy Poh , James Polke , Adriana Rebelo , Maike F Dohrn , Mario Saporta , Henry Houlden , Stephan Zuchner , Mary M Reilly

A common flanking variant is associated with enhanced meiotic stability of the

bioRxiv : the preprint server for biology

Avec: David Pellerin , Giulia Del Gobbo , Madeline Couse , Egor Dolzhenko , Marie-Josée Dicaire , Adriana Rebelo , Virginie Roth , Marion Wandzel , Céline Bonnet , Catherine Ashton , Phillipa J Lamont , Nigel G Laing , Mathilde Renaud , Gianina Ravenscroft , Henry Houlden , Matthis Synofzik , Michael A Eberle , Kym M Boycott , Tomi Pastinen , Auteur inconnu , Bernard Brais , Stephan Zuchner , Matt C Danzi

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

European journal of neurology

Avec: Pablo Iruzubieta , David Pellerin , Alberto Bergareche , Inés Albajar , Elisabet Mondragón , Ana Vinagre , Roberto Fernández-Torrón , Fermín Moreno , Jon Equiza , David Campo-Caballero , Juan José Poza , Marta Ruibal , Alessandro Formica , Marie-Josée Dicaire , Matt C Danzi , Stephan Zuchner , Ioana Croitoru , Montserrat Ruiz , Agatha Schlüter , Carlos Casasnovas , Aurora Pujol , Bernard Brais , Henry Houlden , Adolfo López de Munain , Javier Ruiz-Martínez

Frequency of GAA-

Neurology. Genetics

Avec: Luiz Eduardo Novis , Rodrigo S Frezatti , David Pellerin , Pedro J Tomaselli , Shahryar Alavi , Marcus Vinícius Della Coleta , Mariana Spitz , Marie-Josée Dicaire , Pablo Iruzubieta , José Luiz Pedroso , Orlando Barsottini , Andrea Cortese , Matt C Danzi , Marcondes C França , Bernard Brais , Stephan Zuchner , Henry Houlden , Salmo Raskin , Wilson Marques , Helio A Teive

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.

Brain : a journal of neurology

Avec: Adriana P Rebelo , Clemer Abad , Maike F Dohrn , Jian J Li , Ethan K Tieu , Jessica Medina , Christopher Yanick , Jingyu Huang , Brendan Zotter , Juan I Young , Mario Saporta , Steven S Scherer , Katherina Walz , Stephan Zuchner

The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.

EBioMedicine

Avec: Riwei Ouyang , Linlin Wan , David Pellerin , Zhe Long , Jian Hu , Qian Jiang , Chunrong Wang , Linliu Peng , Huirong Peng , Lang He , Rong Qiu , Junling Wang , Jifeng Guo , Lu Shen , Bernard Brais , Matt C Danzi , Stephan Zuchner , Beisha Tang , Zhao Chen , Hong Jiang

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

Brain : a journal of neurology

Avec: Jessica Medina , Adriana Rebelo , Matt C Danzi , Elizabeth H Jacobs , Isaac R L Xu , Kathleen P Ahrens , Sitong Chen , Jacquelyn Raposo , Christopher Yanick , Stephan Zuchner , Mario A Saporta

Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia.

Biochimica et biophysica acta. Molecular basis of disease

Avec: Amanda G Lobato , Natalie Ortiz-Vega , Tijana Canic , Xianzun Tao , Nika Bucan , Kai Ruan , Adriana P Rebelo , Rebecca Schule , Stephan Zuchner , Sheyum Syed , R Grace Zhai

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

Journal of neuromuscular diseases

Avec: Yavuz Oktay , Serdal Güngör , Lena Zeltner , Sarah Wiethoff , Ludger Schöls , Ece Sonmezler , Elmasnur Yilmaz , Benjamin Munro , Benjamin Bender , Christoph Kernstock , Sofie Kaemereit , Inga Liepelt , Ana Töpf , Uluc Yis , Steven Laurie , Ahmet Yaramis , Stephan Zuchner , Semra Hiz , Hanns Lochmüller , Rebecca Schüle , Rita Horvath

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

Frontiers in neurology

Avec: Andreas Traschütz , Selina Reich , Astrid D Adarmes , Mathieu Anheim , Mahmoud Reza Ashrafi , Jonathan Baets , A Nazli Basak , Enrico Bertini , Bernard Brais , Cynthia Gagnon , Janina Gburek-Augustat , Hasmet A Hanagasi , Anna Heinzmann , Rita Horvath , Peter de Jonghe , Christoph Kamm , Peter Klivenyi , Thomas Klopstock , Martina Minnerop , Alexander Münchau , Mathilde Renaud , Richard H Roxburgh , Filippo M Santorelli , Tommaso Schirinzi , Deborah A Sival , Dagmar Timmann , Stefan Vielhaber , Michael Wallner , Bart P van de Warrenburg , Ginevra Zanni , Stephan Zuchner , Thomas Klockgether , Rebecca Schüle , Ludger Schöls , Auteur inconnu , Matthis Synofzik

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.

European journal of neurology

Avec: Yongzhi Xie , Zhiqiang Lin , Lei Liu , Xiaobo Li , Shunxiang Huang , Huadong Zhao , Binghao Wang , Sen Zeng , Wanqian Cao , Lu Li , Xiying Zhu , Siwei Huang , Honglan Yang , Mengli Wang , Zhengmao Hu , Junling Wang , Jifeng Guo , Lu Shen , Hong Jiang , Stephan Zuchner , Beisha Tang , Ruxu Zhang

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.

American journal of human genetics

Avec: Natalia Mendoza-Ferreira , Mert Karakaya , Nur Cengiz , Danique Beijer , Karlla W Brigatti , Claudia Gonzaga-Jauregui , Nico Fuhrmann , Irmgard Hölker , Maximilian P Thelen , Sebastian Zetzsche , Roman Rombo , Erik G Puffenberger , Peter De Jonghe , Tine Deconinck , Stephan Zuchner , Kevin A Strauss , Vincent Carson , Bertold Schrank , Gilbert Wunderlich , Jonathan Baets , Brunhilde Wirth

Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryos.

Nucleic acids research

Avec: Elena Lo Furno , Isabelle Busseau , Antoine Aze , Claudio Lorenzi , Cima Saghira , Matt C Danzi , Stephan Zuchner , Domenico Maiorano

Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.

medRxiv : the preprint server for health sciences

Avec: Shihan Chen , Catherine Ashton , Rawan Sakalla , Guillemette Clement , Sophie Planel , Celine Bonnet , Phillipa Lamont , Karthik Kulanthaivelu , Atchayaram Nalini , Henry Houlden , Antoine Duquette , Marie-Josee Dicaire , Pablo Iruzubieta Agudo , Javier Ruiz Martinez , Enrique Marco de Lucas , Rodrigo Sutil Berjon , Jon Infante Ceberio , Elisabetta Indelicato , Sylvia Boesch , Matthis Synofzik , Benjamin Bender , Matt C Danzi , Stephan Zuchner , David Pellerin , Bernard Brais , Mathilde Renaud , Roberta La Piana

Somatic instability of the

medRxiv : the preprint server for health sciences

Avec: David Pellerin , Jean-Loup Méreaux , Susana Boluda , Matt C Danzi , Marie-Josée Dicaire , Claire-Sophie Davoine , David Genis , Guinevere Spurdens , Catherine Ashton , Jillian M Hammond , Brandon J Gerhart , Viorica Chelban , Phuong U Le , Maryam Safisamghabadi , Christopher Yanick , Hamin Lee , Sathiji K Nageshwaran , Gabriel Matos-Rodrigues , Zane Jaunmuktane , Kevin Petrecca , Schahram Akbarian , André Nussenzweig , Karen Usdin , Mathilde Renaud , Céline Bonnet , Gianina Ravenscroft , Mario A Saporta , Jill S Napierala , Henry Houlden , Ira W Deveson , Marek Napierala , Alexis Brice , Laura Molina Porcel , Danielle Seilhean , Stephan Zuchner , Alexandra Durr , Bernard Brais

A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.

The EMBO journal

Avec: Manatsu Morikawa , Nivedita U Jerath , Tadayuki Ogawa , Momo Morikawa , Yosuke Tanaka , Michael E Shy , Stephan Zuchner , Nobutaka Hirokawa

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

Nature genetics

Avec: David Pellerin , Giulia F Del Gobbo , Madeline Couse , Egor Dolzhenko , Sathiji K Nageshwaran , Warren A Cheung , Isaac R L Xu , Marie-Josée Dicaire , Guinevere Spurdens , Gabriel Matos-Rodrigues , Igor Stevanovski , Carolin K Scriba , Adriana Rebelo , Virginie Roth , Marion Wandzel , Céline Bonnet , Catherine Ashton , Aman Agarwal , Cyril Peter , Dan Hasson , Nadejda M Tsankova , Ken Dewar , Phillipa J Lamont , Nigel G Laing , Mathilde Renaud , Henry Houlden , Matthis Synofzik , Karen Usdin , Andre Nussenzweig , Marek Napierala , Zhao Chen , Hong Jiang , Ira W Deveson , Gianina Ravenscroft , Schahram Akbarian , Michael A Eberle , Kym M Boycott , Tomi Pastinen , Auteur inconnu , Bernard Brais , Stephan Zuchner , Matt C Danzi

Peripheral neuropathy in mitochondrial disease.

Handbook of clinical neurology

Avec: Rita Horvath , Jessica Medina , Mary M Reilly , Michael E Shy , Stephan Zuchner

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.

Journal of neurology

Avec: Mengli Wang , Honglan Yang , Zhiqiang Lin , Xiaobo Li , Lei Liu , Shunxiang Huang , Huadong Zhao , Xiying Zhu , Qiao Xiao , Ranhui Duan , Junling Wang , Stephan Zuchner , Beisha Tang , Ruxu Zhang

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Brain : a journal of neurology

Avec: Christopher J Record , Mariola Skorupinska , Matilde Laura , Alexander M Rossor , Davide Pareyson , Chiara Pisciotta , Shawna M E Feely , Thomas E Lloyd , Rita Horvath , Reza Sadjadi , David N Herrmann , Jun Li , David Walk , Sabrina W Yum , Richard A Lewis , John Day , Joshua Burns , Richard S Finkel , Mario A Saporta , Sindhu Ramchandren , Michael D Weiss , Gyula Acsadi , Vera Fridman , Francesco Muntoni , Roy Poh , James M Polke , Stephan Zuchner , Michael E Shy , Steven S Scherer , Mary M Reilly , Auteur inconnu

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

EBioMedicine

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Brain : a journal of neurology

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Nature genetics

Large scale in silico characterization of repeat expansion variation in human genomes.

Scientific data

Avec: Sarah Fazal , Matt C Danzi , Vivian P Cintra , Dana M Bis-Brewer , Egor Dolzhenko , Michael A Eberle , Stephan Zuchner

Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs.

Journal of the peripheral nervous system : JPNS

Avec: Fiore Manganelli , Silvia Parisi , Maria Nolano , Francesco Miceli , Stefano Tozza , Chiara Pisciotta , Rosa Iodice , Vincenzo Provitera , Rita Cicatiello , Stephan Zuchner , Maurizio Taglialatela , Tommaso Russo , Lucio Santoro

Community Engagement Practices at Research Centers in U.S. Minority Institutions: Priority Populations and Innovative Approaches to Advancing Health Disparities Research.

International journal of environmental research and public health

Avec: Tabia Henry Akintobi , Payam Sheikhattari , Emma Shaffer , Christina L Evans , Kathryn L Braun , Angela U Sy , Bibiana Mancera , Adriana Campa , Stephania T Miller , Daniel Sarpong , Rhonda Holliday , Julio Jimenez-Chavez , Shafiq Khan , Cimona Hinton , Kimberly Sellars-Bates , Veronica Ajewole , Nicolette I Teufel-Shone , Juliet McMullin , Sandra Suther , K Sean Kimbro , Lorraine Taylor , Carmen M Velez Vega , Carla Williams , George Perry , Stephan Zuchner , Melissa Marzan Rodriguez , Paul B Tchounwou

Conduction block and temporal dispersion in a SIGMAR1-related neuropathy.

Journal of the peripheral nervous system : JPNS

Avec: Rodrigo Siqueira Soares Frezatti , Pedro José Tomaselli , Fernanda Barbosa Figueiredo , Stephan Zuchner , Mary M Reilly , Wilson Marques

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Nature communications

Avec: Marwan Nashabat , Nasrinsadat Nabavizadeh , Hilal Pırıl Saraçoğlu , Burak Sarıbaş , Şahin Avcı , Esra Börklü , Emmanuel Beillard , Elanur Yılmaz , Seyide Ecesu Uygur , Cavit Kerem Kayhan , Luca Bosco , Zeynep Bengi Eren , Katharina Steindl , Manuela Friederike Richter , Guney Bademci , Anita Rauch , Zohreh Fattahi , Maria Lucia Valentino , Anne M Connolly , Angela Bahr , Laura Viola , Anke Katharina Bergmann , Maria Eugenia Rocha , LeShon Peart , Derly Liseth Castro-Rojas , Eva Bültmann , Suliman Khan , Miriam Liliana Giarrana , Raluca Ioana Teleanu , Joanna Michelle Gonzalez , Antonella Pini , Ines Sophie Schädlich , Katharina Vill , Melanie Brugger , Stephan Zuchner , Andreia Pinto , Sandra Donkervoort , Stephanie Ann Bivona , Anca Riza , Auteur inconnu , Ioana Streata , Dieter Gläser , Carolina Baquero-Montoya , Natalia Garcia-Restrepo , Urania Kotzaeridou , Theresa Brunet , Diana Anamaria Epure , Aida Bertoli-Avella , Ariana Kariminejad , Mustafa Tekin , Sandra von Hardenberg , Carsten G Bönnemann , Georg M Stettner , Ginevra Zanni , Hülya Kayserili , Zehra Piraye Oflazer , Nathalie Escande-Beillard

Characterization and visualization of tandem repeats at genome scale.

Nature biotechnology

Avec: Egor Dolzhenko , Adam English , Harriet Dashnow , Guilherme De Sena Brandine , Tom Mokveld , William J Rowell , Caitlin Karniski , Zev Kronenberg , Matt C Danzi , Warren A Cheung , Chengpeng Bi , Emily Farrow , Aaron Wenger , Khi Pin Chua , Verónica Martínez-Cerdeño , Trevor D Bartley , Peng Jin , David L Nelson , Stephan Zuchner , Tomi Pastinen , Aaron R Quinlan , Fritz J Sedlazeck , Michael A Eberle

Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohort.

Scientific reports

Avec: Shashwat Deepali Nagar , Priscilla Pemu , Jun Qian , Eric Boerwinkle , Mine Cicek , Cheryl R Clark , Elizabeth Cohn , Kelly Gebo , Roxana Loperena , Kelsey Mayo , Stephen Mockrin , Lucila Ohno-Machado , Andrea H Ramirez , Sheri Schully , Ashley Able , Ashley Green , Stephan Zuchner , Auteur inconnu , I King Jordan , Robert Meller

Recurrent

Journal of neurology, neurosurgery, and psychiatry

Avec: Maike F Dohrn , Danique Beijer , Museer A Lone , Elif Bayraktar , Piraye Oflazer , Rotem Orbach , Sandra Donkervoort , A Reghan Foley , Aubrey Rose , Michael Lyons , Raymond J Louie , Kenneth Gable , Teresa Dunn , Sitong Chen , Matt C Danzi , Matthis Synofzik , Carsten G Bönnemann , A Nazlı Başak , Thorsten Hornemann , Stephan Zuchner

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.

bioRxiv : the preprint server for biology

Avec: Adriana P Rebelo , Clemer Abad , Maike F Dohrn , Jian J Li , Ethan Tieu , Jessica Medina , Christopher Yanick , Jingyu Huang , Brendan Zotter , Juan I Young , Mario Saporta , Steven S Scherer , Katherina Walz , Stephan Zuchner

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.

Clinical and translational medicine

Avec: David Pellerin , Matt C Danzi , Mathilde Renaud , Henry Houlden , Matthis Synofzik , Stephan Zuchner , Bernard Brais

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy.

Stem cell research

Avec: Christopher Yanick , Renata Maciel , Elizabeth Jacobs , Jacquelyn Schatzman , Michael Shy , Stephan Zuchner , Mario Saporta

Biallelic variants in

medRxiv : the preprint server for health sciences

Avec: Camila Armirola-Ricaurte , Laura Morant , Isabelle Adant , Sherifa Ahmed Hamed , Menelaos Pipis , Stephanie Efthymiou , Silvia Amor-Barris , Derek Atkinson , Liedewei Van de Vondel , Aleksandra Tomic , Els de Vriendt , Stephan Zuchner , Bart Ghesquiere , Michael Hanna , Henry Houlden , Michael P Lunn , Mary M Reilly , Vedrana Milic Rasic , Albena Jordanova

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Brain : a journal of neurology

Avec: Danique Beijer , Maike F Dohrn , Adriana Rebelo , Matt C Danzi , Bianca Rose Grosz , Melina Ellis , Kishore R Kumar , Steve Vucic , Horia Vais , Jillian S Weissenrieder , Olesia Lunko , Usha Paudel , Leah C Simpson , Jacquelyn Raposo , Mario Saporta , Yeisha Arcia , Isaac Xu , Shawna Feely , Christopher J Record , Julian Blake , Mary M Reilly , Steven Scherer , Marina Kennerson , Yi-Chung Lee , J Kevin Foskett , Michael Shy , Stephan Zuchner

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

Annals of neurology

Avec: Widad Abou Chaar , Anirudh N Eranki , Hannah A Stevens , Sonya L Watson , Darice Y Wong , Veronica S Avila , Megan Delfeld , Alexander J Gary , Sanjukta Tawde , Malia Triebold , Marcello Cherchi , Tao Xie , Paul J Lockhart , Melanie Bahlo , David Pellerin , Marie-Josée Dicaire , Matt Danzi , Stephan Zuchner , Bernard C Brais , Susan Perlman , Margit Burmeister , Henry Paulson , Sharan Srinivasan , Lawrence Schut , Matthew Bower , Khalaf Bushara , Chuanhong Liao , Vikram G Shakkottai , John Collins , H Brent Clark , Soma Das , Brent L Fogel , Christopher M Gomez

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Journal of neurology

Avec: Sara Satolli , Salvatore Rossi , Elisa Vegezzi , David Pellerin , Maria Laura Manca , Melissa Barghigiani , Carla Battisti , Giusi Bilancieri , Giorgia Bruno , Elena Capacci , Carlo Casali , Roberto Ceravolo , Sirio Cocozza , Stefano Cotti Piccinelli , Chiara Criscuolo , Matt C Danzi , Rosa De Micco , Giuseppe De Michele , Marie-Josée Dicaire , Grazia Maria Igea Falcone , Roberto Fancellu , Yasmine Ferchichi , Camilla Ferrari , Alessandro Filla , Nicola Fini , Alessandra Govoni , Filomena Lo Vecchio , Alessandro Malandrini , Andrea Mignarri , Olimpia Musumeci , Claudia Nesti , Sabina Pappatà , Maria Teresa Pellecchia , Alessia Perna , Antonio Petrucci , Maria Grazia Pomponi , Roberta Ravenni , Ivana Ricca , Alessandra Rufa , Elisabetta Tabolacci , Alessandra Tessa , Alessandro Tessitore , Stephan Zuchner , Gabriella Silvestri , Andrea Cortese , Bernard Brais , Filippo M Santorelli

The GENESIS database and tools: A decade of discovery in Mendelian genomics.

Experimental neurology

Avec: Matt C Danzi , Eric Powell , Adriana P Rebelo , Maike F Dohrn , Danique Beijer , Sarah Fazal , Isaac R L Xu , Jessica Medina , Sitong Chen , Yeisha Arcia de Jesus , Jacquelyn Schatzman , Ray E Hershberger , Mario Saporta , Jonathan Baets , Marni Falk , David N Herrmann , Steven S Scherer , Mary M Reilly , Andrea Cortese , Wilson Marques , Mario R Carnejo-Olivas , Oranee Sanmaneechai , Marina L Kennerson , Albena Jordanova , Thiago Y T Silva , Jose Luiz Pedroso , Luca Schierbaum , Darius Ebrahimi-Fakhari , Stojan Peric , Yi-Chung Lee , Matthis Synofzik , Mustafa Tekin , Gianina Ravenscroft , Mike Shy , Nazli Basak , Rebecca Schule , Stephan Zuchner

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Matt C Danzi 29 collaborations

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