J Baets

Affiliations
  • Department of Neurology, Neuromuscular Reference Centre, University Hospital Antwerpen, Antwerpen, Belgium.

Publications (53)

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Orphanet journal of rare diseases
Avec: P Vanherpe , S Fieuws , A D'Hondt , C Bleyenheuft , P Demaerel , J De Bleecker , P Van den Bergh , J Baets , G Remiche , K Verhoeven , S Delstanche , M Toussaint , B Buyse , P Van Damme , C E Depuydt , K G Claeys

Distinct features in adult polyglucosan body disease: a case series.

Neuromuscular disorders : NMD
Avec: Jonathan De Winter , Gert Cypers , Edwin Jacobs , Stephanie Vanden Bossche , Tine Deconinck , Willem De Ridder , Sven Dekeyzer , Jonathan Baets

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

Autophagy
Avec: Barbara Tedesco , Leen Vendredy , Elias Adriaenssens , Marta Cozzi , Bob Asselbergh , Valeria Crippa , Riccardo Cristofani , Paola Rusmini , Veronica Ferrari , Elena Casarotto , Marta Chierichetti , Francesco Mina , Paola Pramaggiore , Mariarita Galbiati , Margherita Piccolella , Jonathan Baets , Femke Baeke , Riet De Rycke , Vincent Mouly , Tommaso Laurenzi , Ivano Eberini , Anna Vihola , Bjarne Udd , Lan Weiss , Virginia Kimonis , Vincent Timmerman , Angelo Poletti

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.

Annals of neurology
Avec: Andreas Traschütz , Astrid D Adarmes-Gómez , Mathieu Anheim , Jonathan Baets , Bernard Brais , Cynthia Gagnon , Janina Gburek-Augustat , Sarah Doss , Haşmet A Hanağası , Christoph Kamm , Peter Klivenyi , Thomas Klockgether , Thomas Klopstock , Martina Minnerop , Alexander Münchau , Mathilde Renaud , Filippo M Santorelli , Ludger Schöls , Andreas Thieme , Stefan Vielhaber , Bart P van de Warrenburg , Ginevra Zanni , Ralf-Dieter Hilgers , Auteur inconnu , Matthis Synofzik

Dominant

Brain communications
Avec: Danique Beijer , Sheila Marte , Jiaxin C Li , Willem De Ridder , Jessie Z Chen , Abigail L D Tadenev , Kathy E Miers , Tine Deconinck , Richard Macdonell , Wilson Marques , Peter De Jonghe , Samia L Pratt , Rebecca Meyer-Schuman , Stephan Züchner , Anthony Antonellis , Robert W Burgess , Jonathan Baets

Defects in Axonal Transport in Inherited Neuropathies.

Journal of neuromuscular diseases
Avec: Danique Beijer , Angela Sisto , Jonas Van Lent , Jonathan Baets , Vincent Timmerman

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Journal of neurology
Avec: G J Knuiman , B Küsters , L Eshuis , M Snoeck , M Lammens , L Heytens , W De Ridder , J Baets , R S Scalco , R Quinlivan , J Holton , I Bodi , E Wraige , A Radunovic , C von Landenberg , J Reimann , E-J Kamsteeg , C Sewry , H Jungbluth , N C Voermans

Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation.

Anaesthesia and intensive care
Avec: Karel Heytens , Willem De Ridder , Jan De Bleecker , Luc Heytens , Jonathan Baets

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.

Journal of medical genetics
Avec: Susanna Tulli , Andrea Del Bondio , Valentina Baderna , Davide Mazza , Franca Codazzi , Tyler Mark Pierson , Alessandro Ambrosi , Dagmar Nolte , Cyril Goizet , Camilo Toro , Jonathan Baets , Tine Deconinck , Peter DeJonghe , Paola Mandich , Giorgio Casari , Francesca Maltecca

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.

Journal of neurology, neurosurgery, and psychiatry
Avec: Eppie M Yiu , Paula Bray , Jonathan Baets , Steven K Baker , Nina Barisic , Katy de Valle , Timothy Estilow , Michelle A Farrar , Richard S Finkel , Jana Haberlová , Rachel A Kennedy , Isabella Moroni , Garth A Nicholson , Sindhu Ramchandren , Mary M Reilly , Kristy Rose , Michael E Shy , Carly E Siskind , Sabrina W Yum , Manoj P Menezes , Monique M Ryan , Joshua Burns

A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.

Neuromuscular disorders : NMD
Avec: Willem De Ridder , Geert de Vries , Kristof Van Schil , Tine Deconinck , Vincent Mouly , Volker Straub , Jonathan Baets

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Brain : a journal of neurology
Avec: Annette Lischka , Katja Eggermann , Christopher J Record , Maike F Dohrn , Petra Laššuthová , Florian Kraft , Matthias Begemann , Daniela Dey , Thomas Eggermann , Danique Beijer , Jana Šoukalová , Matilde Laura , Alexander M Rossor , Radim Mazanec , Jonas Van Lent , Pedro J Tomaselli , Martin Ungelenk , Karlien Y Debus , Shawna M E Feely , Dieter Gläser , Sujatha Jagadeesh , Madelena Martin , Geeta M Govindaraj , Pratibha Singhi , Revanth Baineni , Niranjan Biswal , Marisol Ibarra-Ramírez , Maryse Bonduelle , Burkhard Gess , Juan Romero Sánchez , Renu Suthar , Vrajesh Udani , Atchayaram Nalini , Gopikrishnan Unnikrishnan , Wilson Marques , Sandra Mercier , Vincent Procaccio , Céline Bris , Beena Suresh , Vaishnavi Reddy , Mariola Skorupinska , Nathalie Bonello-Palot , Fanny Mochel , Georg Dahl , Karthika Sasidharan , Fiji M Devassikutty , Sheela Nampoothiri , Maria J Rodovalho Doriqui , Wolfgang Müller-Felber , Katharina Vill , Tobias B Haack , Andreas Dufke , Michael Abele , Rolf Stucka , Saima Siddiqi , Noor Ullah , Stephanie Spranger , Deborah Chiabrando , Behiye S Bolgül , Yesim Parman , Pavel Seeman , Angelika Lampert , Jörg B Schulz , John N Wood , James J Cox , Michaela Auer-Grumbach , Vincent Timmerman , Jonathan de Winter , Andreas C Themistocleous , Michael Shy , David L Bennett , Jonathan Baets , Christian A Hübner , Enrico Leipold , Stephan Züchner , Miriam Elbracht , Arman Çakar , Jan Senderek , Thorsten Hornemann , C Geoffrey Woods , Mary M Reilly , Ingo Kurth

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

medRxiv : the preprint server for health sciences
Avec: Wouter Steyaert , Lydia Sagath , German Demidov , Vicente A Yépez , Anna Esteve-Codina , Julien Gagneur , Kornelia Ellwanger , Ronny Derks , Marjan Weiss , Amber den Ouden , Simone van den Heuvel , Hilde Swinkels , Nick Zomer , Marloes Steehouwer , Luke O'Gorman , Galuh Astuti , Kornelia Neveling , Rebecca Schüle , Jishu Xu , Matthis Synofzik , Danique Beijer , Holger Hengel , Ludger Schöls , Kristl G Claeys , Jonathan Baets , Liedewei Van de Vondel , Alessandra Ferlini , Rita Selvatici , Heba Morsy , Marwa Saeed Abd Elmaksoud , Volker Straub , Juliane Müller , Veronica Pini , Luke Perry , Anna Sarkozy , Irina Zaharieva , Francesco Muntoni , Enrico Bugiardini , Kiran Polavarapu , Rita Horvath , Evan Reid , Hanns Lochmüller , Marco Spinazzi , Marco Savarese , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Leslie Matalonga , Steven Laurie , Han G Brunner , Holm Graessner , Sergi Beltran , Stephan Ossowski , Lisenka E L M Vissers , Christian Gilissen , Alexander Hoischen

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

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

medRxiv : the preprint server for health sciences
Avec: Jonathan De Winter , Liedewei Van de Vondel , Biljana Ermanoska , Alice Monticelli , Arnaud Isapof , Enzo Cohen , Tanya Stojkovic , Peter Hackman , Mridul Johari , Johanna Palmio , Megan A Waldrop , Alayne P Meyer , Stefan Nicolau , Kevin M Flanigan , Ana Töpf , Jordi Diaz-Manera , Volker Straub , Cheryl Longman , Catherine A McWilliam , Rotem Orbach , Sumit Verma , Regina Laine , Sandra Donkervoort , Carsten G Bonnemann , Adriana Rebelo , Stephan Züchner , Tiffany Grider , Michael E Shy , Isabelle Maystadt , Florence Demurger , Anita Cairns , Sarah Beecroft , Chiara Folland , Willem De Ridder , Gina Ravenscroft , Gisèle Bonne , Bjarne Udd , Jonathan Baets

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in

Neurology. Genetics
Avec: Willem De Ridder , Isabelle Nelson , Bob Asselbergh , Boel De Paepe , Maud Beuvin , Rabah Ben Yaou , Cécile Masson , Anne Boland , Jean-François Deleuze , Thierry Maisonobe , Bruno Eymard , Sofie Symoens , Roland Schindler , Thomas Brand , Katherine Johnson , Ana Töpf , Volker Straub , Peter De Jonghe , Jan L De Bleecker , Gisèle Bonne , Jonathan Baets

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

Brain : a journal of neurology
Avec: Danique Beijer , Tine Deconinck , Jan L De Bleecker , Maria Teresa Dotti , Alessandro Malandrini , J Andoni Urtizberea , Miren Zulaica , Adolfo López de Munain , Bob Asselbergh , Peter De Jonghe , Jonathan Baets

CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells.

Proceedings of the National Academy of Sciences of the United States of America
Avec: David Blocquel , Litao Sun , Zaneta Matuszek , Sheng Li , Thomas Weber , Bernhard Kuhle , Grace Kooi , Na Wei , Jonathan Baets , Tao Pan , Paul Schimmel , Xiang-Lei Yang

Multisystem proteinopathy due to a homozygous p.Arg159His

Neurology
Avec: Willem De Ridder , Abdelkrim Azmi , Christoph S Clemen , Ludwig Eichinger , Andreas Hofmann , Rolf Schröder , Katherine Johnson , Ana Töpf , Volker Straub , Peter De Jonghe , Stuart Maudsley , Jan L De Bleecker , Jonathan Baets

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

Neurology
Avec: Fabiana Longo , Daniele De Ritis , Annarita Miluzio , Davide Fraticelli , Jonathan Baets , Marina Scarlato , Filippo M Santorelli , Stefano Biffo , Francesca Maltecca

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

European journal of neurology
Avec: Danique Beijer , Maike F Dohrn , Jonathan De Winter , Sarah Fazal , Andrea Cortese , Tanya Stojkovic , Gorka Fernández-Eulate , Gauthier Remiche , Mattia Gentile , Rudy Van Coster , Claudia Dufke , Matthis Synofzik , Peter De Jonghe , Stephan Züchner , Jonathan Baets

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.

Journal of the peripheral nervous system : JPNS
Avec: Isaac R L Xu , Matt C Danzi , Ariel Ruiz , Jacquelyn Raposo , Yeisha Arcia De Jesus , Mary M Reilly , Andrea Cortese , Michael E Shy , Steven S Scherer , David N Herrmann , Vera Fridman , Jonathan Baets , Mario Saporta , Reza Seyedsadjadi , Tanya Stojkovic , Kristl G Claeys , Pooja Patel , Shawna Feely , Adriana P Rebelo , Auteur inconnu , Maike F Dohrn , Stephan Züchner

Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.

Acta neuropathologica
Avec: Laura Krumm , Tatyana Pozner , Naime Zagha , Roland Coras , Philipp Arnold , Thanos Tsaktanis , Kathryn Scherpelz , Marie Y Davis , Johanna Kaindl , Iris Stolzer , Patrick Süß , Mukhran Khundadze , Christian A Hübner , Markus J Riemenschneider , Jonathan Baets , Claudia Günther , Suman Jayadev , Veit Rothhammer , Florian Krach , Jürgen Winkler , Beate Winner , Martin Regensburger

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

Orphanet journal of rare diseases
Avec: Matilde Malcorps , Silvia Amor-Barris , Birute Burnyte , Ramune Vilimiene , Camila Armirola-Ricaurte , Kristina Grigalioniene , Alexandra Ekshteyn , Ausra Morkuniene , Arunas Vaitkevicius , Els De Vriendt , Jonathan Baets , Steven S Scherer , Laima Ambrozaityte , Algirdas Utkus , Albena Jordanova , Kristien Peeters

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.

Brain pathology (Zurich, Switzerland)
Avec: Juliane Bremer , Axel Meinhardt , Istvan Katona , Jan Senderek , Elke K Kämmerer-Gassler , Andreas Roos , Andreas Ferbert , J Michael Schröder , Stefan Nikolin , Kay Nolte , Bernd Sellhaus , Klimentina Popzhelyazkova , Frank Tacke , Ulrike Schara-Schmidt , Eva Neuen-Jacob , Chantal Ceuterick de Groote , Peter de Jonghe , Vincent Timmerman , Jonathan Baets , Joachim Weis

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.

Brain communications
Avec: Daniele De Ritis , Laura Ferrè , Jonathan De Winter , Clémence Tremblay-Desbiens , Mathieu Blais , Maria Teresa Bassi , Nicolas Dupré , Jonathan Baets , Massimo Filippi , Francesca Maltecca

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on

Neurology
Avec: Jan Senderek , Petra Lassuthova , Dagmara Kabzińska , Lisa Abreu , Jonathan Baets , Christian Beetz , Geir J Braathen , David Brenner , Joline Dalton , Lois Dankwa , Tine Deconinck , Peter De Jonghe , Bianca Dräger , Katja Eggermann , Melina Ellis , Carina Fischer , Tanya Stojkovic , David N Herrmann , Rita Horvath , Helle Høyer , Stephan Iglseder , Marina Kennerson , Katharina Kinslechner , Jennefer N Kohler , Ingo Kurth , Nigel G Laing , Phillipa J Lamont , Löscher Wolfgang N , Albert Ludolph , Wilson Marques , Garth Nicholson , Royston Ong , Susanne Petri , Gianina Ravenscroft , Adriana Rebelo , Giulia Ricci , Sabine Rudnik-Schöneborn , Anja Schirmacher , Beate Schlotter-Weigel , Ludger Schoels , Rebecca Schüle , Matthis Synofzik , Bruno Francou , Tim M Strom , Johannes Wagner , David Walk , Julia Wanschitz , Daniela Weinmann , Jochen Weishaupt , Manuela Wiessner , Reinhard Windhager , Peter Young , Stephan Züchner , Stefan Toegel , Pavel Seeman , Andrzej Kochański , Michaela Auer-Grumbach

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain : a journal of neurology
Avec: Darius Ebrahimi-Fakhari , Julian Teinert , Robert Behne , Miriam Wimmer , Angelica D'Amore , Kathrin Eberhardt , Barbara Brechmann , Marvin Ziegler , Dana M Jensen , Premsai Nagabhyrava , Gregory Geisel , Erin Carmody , Uzma Shamshad , Kira A Dies , Christopher J Yuskaitis , Catherine L Salussolia , Daniel Ebrahimi-Fakhari , Toni S Pearson , Afshin Saffari , Andreas Ziegler , Stefan Kölker , Jens Volkmann , Antje Wiesener , David R Bearden , Shenela Lakhani , Devorah Segal , Anaita Udwadia-Hegde , Andrea Martinuzzi , Jennifer Hirst , Seth Perlman , Yoshihisa Takiyama , Georgia Xiromerisiou , Katharina Vill , William O Walker , Anju Shukla , Rachana Dubey Gupta , Niklas Dahl , Ayse Aksoy , Helene Verhelst , Mauricio R Delgado , Radka Kremlikova Pourova , Abdelrahim A Sadek , Nour M Elkhateeb , Lubov Blumkin , Alejandro J Brea-Fernández , David Dacruz-Álvarez , Thomas Smol , Jamal Ghoumid , Diego Miguel , Constanze Heine , Jan-Ulrich Schlump , Hendrik Langen , Jonathan Baets , Saskia Bulk , Hossein Darvish , Somayeh Bakhtiari , Michael C Kruer , Elizabeth Lim-Melia , Nur Aydinli , Yasemin Alanay , Omnia El-Rashidy , Sheela Nampoothiri , Chirag Patel , Christian Beetz , Peter Bauer , Grace Yoon , Mireille Guillot , Steven P Miller , Thomas Bourinaris , Henry Houlden , Laura Robelin , Mathieu Anheim , Abdullah S Alamri , Adel A H Mahmoud , Soroor Inaloo , Parham Habibzadeh , Mohammad Ali Faghihi , Anna C Jansen , Stefanie Brock , Agathe Roubertie , Basil T Darras , Pankaj B Agrawal , Filippo M Santorelli , Joseph Gleeson , Maha S Zaki , Sarah I Sheikh , James T Bennett , Mustafa Sahin

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with

Neurology
Avec: Giulia Coarelli , Rebecca Schule , Bart P C van de Warrenburg , Peter De Jonghe , Claire Ewenczyk , Andrea Martinuzzi , Matthis Synofzik , Elisa G Hamer , Jonathan Baets , Mathieu Anheim , Ludger Schöls , Tine Deconinck , Pegah Masrori , Bertrand Fontaine , Thomas Klockgether , Maria Grazia D'Angelo , Marie-Lorraine Monin , Jan De Bleecker , Isabelle Migeotte , Perrine Charles , Maria Teresa Bassi , Thomas Klopstock , Fanny Mochel , Elisabeth Ollagnon-Roman , Marc D'Hooghe , Christoph Kamm , Delia Kurzwelly , Melanie Papin , Claire-Sophie Davoine , Guillaume Banneau , Sophie Tezenas du Montcel , Danielle Seilhean , Alexis Brice , Charles Duyckaerts , Giovanni Stevanin , Alexandra Durr

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Brain : a journal of neurology
Avec: Tim W Rattay , Tobias Lindig , Jonathan Baets , Katrien Smets , Tine Deconinck , Anne S Söhn , Konstanze Hörtnagel , Kathrin N Eckstein , Sarah Wiethoff , Jennifer Reichbauer , Marion Döbler-Neumann , Ingeborg Krägeloh-Mann , Michaela Auer-Grumbach , Barbara Plecko , Alexander Münchau , Bernd Wilken , Marc Janauschek , Anne-Katrin Giese , Jan L De Bleecker , Els Ortibus , Martine Debyser , Adolfo Lopez de Munain , Aurora Pujol , Maria Teresa Bassi , Maria Grazia D'Angelo , Peter De Jonghe , Stephan Züchner , Peter Bauer , Ludger Schöls , Rebecca Schüle

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Annals of neurology
Avec: Andreas Traschütz , Tommaso Schirinzi , Lucia Laugwitz , Nathan H Murray , Craig A Bingman , Selina Reich , Jan Kern , Anna Heinzmann , Gessica Vasco , Enrico Bertini , Ginevra Zanni , Alexandra Durr , Stefania Magri , Franco Taroni , Alessandro Malandrini , Jonathan Baets , Peter de Jonghe , Willem de Ridder , Matthieu Bereau , Stephanie Demuth , Christos Ganos , A Nazli Basak , Hasmet Hanagasi , Semra Hiz Kurul , Benjamin Bender , Ludger Schöls , Ute Grasshoff , Thomas Klopstock , Rita Horvath , Bart van de Warrenburg , Lydie Burglen , Christelle Rougeot , Claire Ewenczyk , Michel Koenig , Filippo M Santorelli , Mathieu Anheim , Renato P Munhoz , Tobias Haack , Felix Distelmaier , David J Pagliarini , Hélène Puccio , Matthis Synofzik

Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis.

Neurobiology of disease
Avec: Julie van der Zee , Lubina Dillen , Yalda Baradaran-Heravi , Helena Gossye , Cemile Koçoğlu , Ivy Cuyt , Bart Dermaut , Anne Sieben , Jonathan Baets , Peter De Jonghe , Rik Vandenberghe , Peter De Deyn , Patrick Cras , Sebastiaan Engelborghs , Christine Van Broeckhoven , Auteur inconnu

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

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

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Brain : a journal of neurology
Avec: Manuela Wiessner , Reza Maroofian , Meng-Yuan Ni , Andrea Pedroni , Juliane S Müller , Rolf Stucka , Christian Beetz , Stephanie Efthymiou , Filippo M Santorelli , Ahmed A Alfares , Changlian Zhu , Anna Uhrova Meszarosova , Elham Alehabib , Somayeh Bakhtiari , Andreas R Janecke , Maria Gabriela Otero , Jin Yun Helen Chen , James T Peterson , Tim M Strom , Peter De Jonghe , Tine Deconinck , Willem De Ridder , Jonathan De Winter , Rossella Pasquariello , Ivana Ricca , Majid Alfadhel , Bart P van de Warrenburg , Ruben Portier , Carsten Bergmann , Saghar Ghasemi Firouzabadi , Sheng Chih Jin , Kaya Bilguvar , Sherifa Hamed , Mohammed Abdelhameed , Nourelhoda A Haridy , Shazia Maqbool , Fatima Rahman , Najwa Anwar , Jenny Carmichael , Alistair Pagnamenta , Nick W Wood , Frederic Tran Mau-Them , Tobias Haack , Auteur inconnu , Maja Di Rocco , Isabella Ceccherini , Michele Iacomino , Federico Zara , Vincenzo Salpietro , Marcello Scala , Marta Rusmini , Yiran Xu , Yinghong Wang , Yasuhiro Suzuki , Kishin Koh , Haitian Nan , Hiroyuki Ishiura , Shoji Tsuji , Laëtitia Lambert , Emmanuelle Schmitt , Elodie Lacaze , Hanna Küpper , David Dredge , Cara Skraban , Amy Goldstein , Mary J H Willis , Katheryn Grand , John M Graham , Richard A Lewis , Francisca Millan , Özgür Duman , Nihal Dündar , Gökhan Uyanik , Ludger Schöls , Peter Nürnberg , Gudrun Nürnberg , Andrea Catala Bordes , Pavel Seeman , Martin Kuchar , Hossein Darvish , Adriana Rebelo , Filipa Bouçanova , Jean-Jacques Medard , Roman Chrast , Michaela Auer-Grumbach , Fowzan S Alkuraya , Hanan Shamseldin , Saeed Al Tala , Jamileh Rezazadeh Varaghchi , Maryam Najafi , Selina Deschner , Dieter Gläser , Wolfgang Hüttel , Michael C Kruer , Erik-Jan Kamsteeg , Yoshihisa Takiyama , Stephan Züchner , Jonathan Baets , Matthis Synofzik , Rebecca Schüle , Rita Horvath , Henry Houlden , Luca Bartesaghi , Hwei-Jen Lee , Konstantinos Ampatzis , Tyler Mark Pierson , Jan Senderek

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT.

Neurology
Avec: Anthony A Amato , Michael G Hanna , Pedro M Machado , Umesh A Badrising , Hector Chinoy , Olivier Benveniste , Ananda Krishna Karanam , Min Wu , László B Tankó , Agnes Annette Schubert-Tennigkeit , Dimitris A Papanicolaou , Thomas E Lloyd , Merrilee Needham , Christina Liang , Katrina A Reardon , Marianne de Visser , Dana P Ascherman , Richard J Barohn , Mazen M Dimachkie , James A L Miller , John T Kissel , Björn Oskarsson , Nanette C Joyce , Peter Van den Bergh , Jonathan Baets , Jan L De Bleecker , Chafic Karam , William S David , Massimiliano Mirabella , Sharon P Nations , Hans H Jung , Elena Pegoraro , Lorenzo Maggi , Carmelo Rodolico , Massimiliano Filosto , Aziz I Shaibani , Kumaraswamy Sivakumar , Namita A Goyal , Madoka Mori-Yoshimura , Satoshi Yamashita , Naoki Suzuki , Masashi Aoki , Masahisa Katsuno , Hirokazu Morihata , Kenya Murata , Hiroyuki Nodera , Ichizo Nishino , Carla D Romano , Valerie S L Williams , John Vissing , Lixin Zhang Auberson , Auteur inconnu

Genetic pain loss disorders.

Nature reviews. Disease primers
Avec: Annette Lischka , Petra Lassuthova , Arman Çakar , Christopher J Record , Jonas Van Lent , Jonathan Baets , Maike F Dohrn , Jan Senderek , Angelika Lampert , David L Bennett , John N Wood , Vincent Timmerman , Thorsten Hornemann , Michaela Auer-Grumbach , Yesim Parman , Christian A Hübner , Miriam Elbracht , Katja Eggermann , C Geoffrey Woods , James J Cox , Mary M Reilly , Ingo Kurth

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.

Brain : a journal of neurology
Avec: Jonas Van Lent , Leen Vendredy , Elias Adriaenssens , Tatiana Da Silva Authier , Bob Asselbergh , Marcus Kaji , Sarah Weckhuysen , Ludo Van Den Bosch , Jonathan Baets , Vincent Timmerman

A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium.

Acta neurologica Belgica
Avec: Jan L De Bleecker , Kristl G Claeys , Stéphanie Delstanche , Vinciane Van Parys , Jonathan Baets , Sébastien Tilleux , Gauthier Remiche

Contracturing granulomatous myositis in a patient with rheumatoid arthritis: a case report.

Neuromuscular disorders : NMD
Avec: Willem De Ridder , Laurens Van Herck , Gert Cypers , Isabelle Ravelingien , Jonathan Baets

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.

The Lancet. Neurology
Avec: Michael G Hanna , Umesh A Badrising , Olivier Benveniste , Thomas E Lloyd , Merrilee Needham , Hector Chinoy , Masashi Aoki , Pedro M Machado , Christina Liang , Katrina A Reardon , Marianne de Visser , Dana P Ascherman , Richard J Barohn , Mazen M Dimachkie , James A L Miller , John T Kissel , Björn Oskarsson , Nanette C Joyce , Peter Van den Bergh , Jonathan Baets , Jan L De Bleecker , Chafic Karam , William S David , Massimiliano Mirabella , Sharon P Nations , Hans H Jung , Elena Pegoraro , Lorenzo Maggi , Carmelo Rodolico , Massimiliano Filosto , Aziz I Shaibani , Kumaraswamy Sivakumar , Namita A Goyal , Madoka Mori-Yoshimura , Satoshi Yamashita , Naoki Suzuki , Masahisa Katsuno , Kenya Murata , Hiroyuki Nodera , Ichizo Nishino , Carla D Romano , Valerie S L Williams , John Vissing , Lixin Zhang Auberson , Min Wu , Ana de Vera , Dimitris A Papanicolaou , Anthony A Amato , Auteur inconnu

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Neuromuscular disorders : NMD
Avec: Carola Hedberg-Oldfors , Willem De Ridder , Ognian Kalev , Klaus Böck , Kittichate Visuttijai , Georg Caravias , Ana Töpf , Volker Straub , Jonathan Baets , Anders Oldfors

The expanding genetic landscape of hereditary motor neuropathies.

Brain : a journal of neurology
Avec: Danique Beijer , Jonathan Baets

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

American journal of human genetics
Avec: Sandra Donkervoort , Carl E Kutzner , Ying Hu , Xavière Lornage , John Rendu , Tanya Stojkovic , Jonathan Baets , Sarah B Neuhaus , Jantima Tanboon , Reza Maroofian , Véronique Bolduc , Magdalena Mroczek , Stefan Conijn , Nancy L Kuntz , Ana Töpf , Soledad Monges , Fabiana Lubieniecki , Riley M McCarty , Katherine R Chao , Serena Governali , Johann Böhm , Kanokwan Boonyapisit , Edoardo Malfatti , Tumtip Sangruchi , Iren Horkayne-Szakaly , Carola Hedberg-Oldfors , Stephanie Efthymiou , Satoru Noguchi , Sarah Djeddi , Aritoshi Iida , Gabriella di Rosa , Chiara Fiorillo , Vincenzo Salpietro , Niklas Darin , Julien Fauré , Henry Houlden , Anders Oldfors , Ichizo Nishino , Willem de Ridder , Volker Straub , Wojciech Pokrzywa , Jocelyn Laporte , A Reghan Foley , Norma B Romero , Coen Ottenheijm , Thorsten Hoppe , Carsten G Bönnemann

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease.

Molecular cell
Avec: Evgeniia Prokhorova , Thomas Agnew , Anne R Wondisford , Michael Tellier , Nicole Kaminski , Danique Beijer , James Holder , Josephine Groslambert , Marcin J Suskiewicz , Kang Zhu , Julia M Reber , Sarah C Krassnig , Luca Palazzo , Shona Murphy , Michael L Nielsen , Aswin Mangerich , Dragana Ahel , Jonathan Baets , Roderick J O'Sullivan , Ivan Ahel

High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients.

Neuromuscular disorders : NMD
Avec: Willem De Ridder , Peter De Jonghe , Volker Straub , Jonathan Baets

Biallelic

Life science alliance
Avec: Danique Beijer , Thomas Agnew , Johannes Gregor Matthias Rack , Evgeniia Prokhorova , Tine Deconinck , Berten Ceulemans , Stojan Peric , Vedrana Milic Rasic , Peter De Jonghe , Ivan Ahel , Jonathan Baets

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.

JCI insight
Avec: Danique Beijer , Hong Joo Kim , Lin Guo , Kevin O'Donovan , Inès Mademan , Tine Deconinck , Kristof Van Schil , Charlotte M Fare , Lauren E Drake , Alice F Ford , Andrzej Kochański , Dagmara Kabzińska , Nicolas Dubuisson , Peter Van den Bergh , Nicol C Voermans , Richard Jlf Lemmers , Silvère M van der Maarel , Devon Bonner , Jacinda B Sampson , Matthew T Wheeler , Anahit Mehrabyan , Steven Palmer , Peter De Jonghe , James Shorter , J Paul Taylor , Jonathan Baets

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society
Avec: Liedewei Van de Vondel , Jonathan De Winter , Danique Beijer , Giulia Coarelli , Melanie Wayand , Robin Palvadeau , Martje G Pauly , Katrin Klein , Maren Rautenberg , Léna Guillot-Noël , Tine Deconinck , Atay Vural , Sibel Ertan , Okan Dogu , Hilmi Uysal , Vesna Brankovic , Rebecca Herzog , Alexis Brice , Alexandra Durr , Stephan Klebe , Friedrich Stock , Almut Turid Bischoff , Tim W Rattay , María-Jesús Sobrido , Giovanna De Michele , Peter De Jonghe , Thomas Klopstock , Katja Lohmann , Ginevra Zanni , Filippo M Santorelli , Vincent Timmerman , Tobias B Haack , Stephan Züchner , Auteur inconnu , Rebecca Schüle , Giovanni Stevanin , Matthis Synofzik , A Nazli Basak , Jonathan Baets

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

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.

Acta neuropathologica
Avec: Pedro Ervilha Pereira , Nika Schuermans , Antoon Meylemans , Pontus LeBlanc , Lauren Versluys , Katie E Copley , Jack D Rubien , Christopher Altheimer , Myra Peetermans , Elke Debackere , Olivier Vanakker , Sandra Janssens , Jonathan Baets , Kristof Verhoeven , Martin Lammens , Sofie Symoens , Boel De Paepe , Sami J Barmada , James Shorter , Jan L De Bleecker , Elke Bogaert , Bart Dermaut

Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.

Trends in neurosciences
Avec: Liedewei Van de Vondel , Jonathan De Winter , Vincent Timmerman , Jonathan Baets

Vitamin D

Scientific reports
Avec: Sabrina Ehnert , Stefan Hauser , Holger Hengel , Philip Höflinger , Rebecca Schüle , Tobias Lindig , Jonathan Baets , Tine Deconinck , Peter de Jonghe , Tina Histing , Andreas K Nüssler , Ludger Schöls , Tim W Rattay

Réseau de co-auteurs

Jonathan Baets 51 collaborations
Peter De Jonghe 15 collaborations
Tine Deconinck 14 collaborations
Danique Beijer 14 collaborations
None None 12 collaborations
Willem De Ridder 11 collaborations
Matthis Synofzik 10 collaborations
Stephan Züchner 9 collaborations
Vincent Timmerman 8 collaborations
Ludger Schöls 8 collaborations
Volker Straub 8 collaborations
Rebecca Schüle 8 collaborations
Jan L De Bleecker 8 collaborations
Jonathan De Winter 7 collaborations
Filippo M Santorelli 7 collaborations
Maike F Dohrn 6 collaborations
Mathieu Anheim 5 collaborations
Thomas Klopstock 5 collaborations
Mary M Reilly 5 collaborations
Michaela Auer-Grumbach 5 collaborations
Jan Senderek 5 collaborations
Liedewei Van de Vondel 5 collaborations
Rita Horvath 5 collaborations
Tanya Stojkovic 5 collaborations
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Ginevra Zanni 4 collaborations
Wilson Marques 4 collaborations
Jonas Van Lent 4 collaborations
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