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Hanns Lochmüller

Children's Hospital of Eastern Ontario

100H-index
1.6KPaper Count
3.8WCitation Count
Published Papers 322
Publication Date
Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking
err2026-08-14
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errOAAI
errStephen H. Holland; Ricardo Carmona-Martinez; Andreas Hentschel; Alexa Derksen; Kaela O’Connor; Daniel O’Neil; Kelly Ho; Stephen D. Baird; Andreas Roos; Sally Spendiff; Hanns Lochmüller
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A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies
err2026-03-03
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errOAAI
errMarc Pauper; Heike Kölbel; Iakowos Karakesisoglou; Anne Schänzer; Johann Böhm; Rachel Thompson; Nicolai Kohlschmidt; Bernd Ringel; Gisèle Bonne; Katja Neuhoff; Andrea Gangfuß; Ozge Aksel Kilicarslan; Sergi Beltran Agullo; Andreas Hentschel; Ulrike Schara-Schmidt; Hanns Lochmüller; Kiran Polavarapu; Andreas Roos
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Results of a phase II open-label, multiple-dose study of vamorolone (VBP15-006) in 7- to < 18-year-old boys with duchenne muscular dystrophy
err2026-03-03
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errOAAI
errHanns Lochmüller; Hernan Gonorazky; Elisa Nigro; Jean K. Mah; Alberto Alemán; Amanda Yaworski; Maryam Oskoui; Anne Marie Sbrocchi; Kathryn Selby; Ana de Vera; Laura McAdam; Ekaterina Gresko; Aki Linden; Catherine Dutreix; Eric P. Hoffman
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A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia
err2026-01-01
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PREAI
errKilicarslan, Ozge Aksel; Gangfuss, Andrea; Hentschel, Andreas; Koelbel, Heike; Muhmann, David; Topf, Ana; Stohr, Mareile; Chen, Lei; Horvath, Rita; Thompson, Rachel; Schara-schmidt, Ulrike; Kurth, Ingo; Lochmuller, Hanns; Kraft, Florian; Polavarapu, Kiran; Roos, Andreas
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A toolkit for new facioscapulohumeral muscular dystrophy trial sites
err2025-12-26
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errOAAI
errJoost Kools; Lawrence Korngut; Janet Petrillo Ballantyne; Irene Roozen; Ria de Haas; Amanda Hill; Teresinha Evangelista; Valeria A Sansone; Richard Roxburgh; Hanns Lochmuller; Jeff Statland; Nicholas E Johnson; Nicol Voermans
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Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry
errBrain
IF11.7
err2025-12-23
err0
errOAAI
errCornelia Voigt-Müller; Michelle Pfaffenlehner; Günther Bernert; Hakan Cetin; Tim Hagenacker; Heike Kölbel; Hanns Lochmüller; Christian Pfeuffer; Katharina Vill; Maggie C Walter; Janbernd Kirschner; Astrid Pechmann; ; Pascal Martin; Christoph Neuwirth; Andreas Merkenschlager; René Günther; Mathias Müller; Regina Trollmann; Gert Wiegand; Sabine Illsinger; Omar Keritam; Matthias Baumann; Sarah Bernsen; Claudia Weiß; Gerd Meyer zu Hörste; Matthias Türk; Daniel Zeller; Thomas M K Völkl; Uta Diebold; Verena Haug; Wolfgang Löscher; Dorothea Holzwarth; Mareike Schimmel; Burkhard Stüve; Karin Wabnegger; Ralf A Husain; Oliver Schwartz; Matthias Vorgerd; Eva Matzker; Gilbert Wunderlich; Raffi Topakian; Eckard Hamelmann; Anette Schwerin-Nagel; Marina Flotats-Bastardas; Astrid Blaschek; Christof Reihle; Astrid Bertsche; Ruth Janßen; Andreas Merkenschlager; Sandra Nebgen; Martin Smitka; Andreas Ziegler; Manuela Theophil; Ruth Janßen; Moritz Metelmann; Birgit Kauffmann; Andreas Hahn; Gudrun Schreiber; Anette Schwerin-Nagel; Astrid Eisenkölbl; Martin Winterholler; Eva Stögmann; Veronka Horber; Friedrich Ebinger; Tobias Geis; Martin Fleger; Jessika Johannsen; Meike Bettina Göricke; Veronika Pilshofer; Maren Fuchs; Paul Lingor; Alexander Mensch; Robert Steinbach; Sebastian Friedrich; Julian Großkreutz; Zeljko Uzelac; Friederike Sophie Kohlmann; Harald Faninger; Simone Mahal; Christoph Korenke; Harald Binder; Katharina Dörnbrack; Jasmin Bischofberger; Janina Gburek-Augustat; Hanna Sophie Lapp; Tanja Zindler; Bettina Behring; Miriam Hiebeler; Hans Hartmann; Benjamin Stolte; Bernhard Fasching; Christian Lechner; Patrick Weydt; Joanna Schneider; Sarah Wiethoff; Julia Bellut; Johannes C Stoffels; Antje Schmidt; Corrine G C Horlings; Alexandra Klotz; Daniela Angelova-Toshkina; Sabine Knafl-Slamanig; Daniela Steuernagel; Hélène Guillemot; Melanie Drabant; Kathrin Hornung; Hormos Salimi Dafsari; Petra Müller; Georg Classen; Michael Grässl; Viola Horneff; Sarah Braun; Josefine Lendeckel; Oliver Summ; Janina Gburek-Augustat; Ilona Krauspe-Stübecke; Maja von der Hagen; Michal Fischer; Klaus Goldhahn; Oliver Summ; Christa-Caroline Bergner; Adela Della Marina; Marieke Ziegler; Omar Keritam; Kyriakos Martakis; Bernd Wilken; Michael Grässl; Manuel Pühringer; Christophe Rauch; Hanna Küpper; Julia Maren Lüttgenau; Marion Pilz; Jonas Denecke; Melanie Haage-Brüning; Kathrin Mörtlbauer; Franziska Grünberg-Lemi; Marcus Deschauer; Caroline Deborah Stapf; Annekathrin Rödiger; Cornelia Voigt-Müller; Janina von der Gablentz; Beate Muschner; Ronny Nebelung; Alina Sapranidis; Magdalena Gosk - Tomek; Heike Losch; Maren Hackenberg; Alexandra Giese; Ursula Schneider Rosinger; Sybille Döhler; Maria Rehfeldt; Stephanie Schüssler; Stephan Wenninger; Barbara Ramadan; Svenja Neuhoff; Gudrun Zulehner; Rachel Fabian; Angela Kaindl; Johannes Flammer; Brigitte Brauner; Carmen Hollerauer; Tajana Brunckhorst; Anna Hotter; Gabriel Dworschak; Lisa Jung; Sabine Borowski; Timo Deba; Anne-Katrin Güttsches; Lisa Starke; Jürgen-Christoph von Kleist-Retzow; Ina Krahwinkler; Burkhard Gess; Lukas Neubauer; Michael Zemlin; Wolfgang Müller-Felber; Markus Blankenburg; Josefin Grabow; Philipp Hoth; Ilka Lehnert; Georg Friedrich Hoffmann; Arpad von Moers; Philipp Hoth; Petra Baum; Nina Rademacher; Ulf Hustedt; Bernhard Fasching; Jolanta Heinzinger; Magnus Ruf; Barbara Plecko; Marie-Luise Drax; Frank Kerling; Nadja Kaiser; Eleni Chatzizisi; Joenna Driemeyer; Meret Tabea Dreyer; Elke Pernegger; Isabell Cordts; Ilka Schneider; Benjamin Ilse; Sara-Maria Simon; Bernd Friedrich; Kurt Wollinsky; Janina Gburek-Augustat; Franz-Philipp Brändle; Anna Wiesenhofer; Iris Marquardt; Clemens Schächter; Christine Mauz; Christina Knellwolf; Maren Freigang; Raphael Seebröker; Simone Thiele; Melina Schlag; Jakob Rath; Margrit Koglin; Lisa Valerie Bitzan; Christine Leypold; Florian Junge; Katrin Schüler; Franziska Busch; Sabrina Geissler; Heike de Vries; Katja Köbbing; Ute Weyen; Ioanna Angeli; Barbara Plecko; Kerstin Böcking; Moritz Tacke; Michael Schroth; Frauke Ehrhardt; Monika Meyer; Nicole Claus; Stefan Kölker; Kathrin Bühner; Monika Meyer; Jennifer Rolack; Britta Holtkamp; Inka Brandes; Jakob Rath; Rahel Schuler; Elisabeth Steiner; Martin Drechsel; Dorothee Fütterer; Patricia Müller; Paula Steffens; Ulrike Wolf; Tanja Neumair; Marianne Rösner; Anna Katharina Koelsch; Almut Fritsch; Eva Jung; Clemens Runge; Kornelia Kreiser; Andreas Merkenschlager; Susanne Grinzinger; Yvonne Lechner; Renate Peters; Max Behrens; Adrian Tassoni; Zylfije Dibrani; Marian Kollaske; Laura Stimmer; Jaquelina Lipka; Martin Krenn; Martina Delitz; Alexandra Wagner; Katja D’Amico-Hofmann; Anna Resch; Lisa Allenstein; Stephanie Molitor; Peter Huppke; Andor Horváth; Jakob Wefers; Julia Turowski; Sabine Hettrich; Iris Hannibal; Lutz Dondit; Aglaia Lütjens; Stefan Kappel; Sandy Förster; Sabine Specht; Katharin Müller-Kaempffer; Stefan Kappel; Barbara Andres; Krisitin Kook; Martin Krenn; Andrea Hackemer; Doris Roland-Schäfer; Ingo Conze; Deike Weiss; Mario Müller; Anna Elmecker; Petra Rau; Thomas Kendzierski; Uta Smesny; Nikolai Jung; Astri Fromm; Johannes Dorst; Henriette Kiep; Christian Rauscher; Katia Vettori; Tobias Linden; Tim Kampowski; Anja Boegner; Eva Malm; Fritz Zimprich; Barbara Schwegmann; Vladimir Dukic; Rike Remmert; Christa Bretschneider; Barbara Fiedler; Corinna Rademacher; Loreen Plugge; Sybille Stephan-Lutter; Lena Manssen; Eva Wendel; Martina Neininger; Anja Meenken; Moritz Niesert; Annika Meenken; Nina Schlaghecke; Meike Kahrs; Fritz Zimprich; Lena Ruß; Eva Jansen; Heidi Starke; Jörg Tiedemann; Verena Angermair; Vincent Gmeiner; Sebastian Plutz; Anna-Lena Fleischer; Sabine Wider; Kristin Loyal; Victoria Göbel; Alexander Bobe; Anna-Maria Gaese; Katharina Längle; Birgitt Moed; Franziska Wenzel; Katharina Wagner; Peter Reilich; Thomas Dörnen; Corinna Stoltenburg; Hanna Reinke-Hermer; Sindy Becker; Eva Johann to Settel; Karsten Krause; Christine Sprengart; Birgit Warken-Madelung; Daniela Banholzer; Katja Koch; Urania Kotzaeridou; Katja Koch; Jana Barluschke; Kirsten Fündeling-Tielitz; Gudrun Zulehner; Katharina Unverfehrt; Esther Maihöfer; Ricarda von Heynitz; Max Obenauf; Nadin Fedtke; Juliane Hug; Mohammad Kalaf; Julia Seifert; Ramona Menzel; Mirjam Spitzinger; Anna Hüpper; Shalin Nerkamp; Lukas Nalbach; Beate Schlotter-Weigel; Zoé Messerli; Anja Müller; Geerthe Margriet Balk; Irene Lange; Nicole Groß; Annika Roser-Unruh; Elke Preisendanz; Jessica Ribke; Annegret Hoevel; Jessica Ribke; Corinna Doege; Daniel Bormann; Heidrun Krämer-Best; Birgit Meßmer; Barbara Vogel; David Strube; Saskia Beyer; Matthias Eckenweiler; Maj-Britt Bartels; Aneliya Simeonova Eroglu; Elena Gantschew; Elke Tiefenthaler; Nora Maier; Janina Fürup; David Leibensperger; Laura Kahle; Sibylle Vogt; Sabine Stein
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Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives
err2025-12-17
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errOAAI
errOsman, Homira; Adamji, Zainab; Lintern, Stacey; Smith, Ian C.; Grant, Alyssa; Lessard, Lola E. R.; Lochmuller, Hanns; Mcmillan, Hugh; Selby, Kathryn; Pfeffer, Gerald; Korngut, Lawrence; Gagnon, Cynthia; Thavorn, Kednapa; Warman-chardon, Jodi
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Novel muscle MRI features in Desmin related myasthenic myopathy
err2025-12-03
err0
PREAI
errDipti Baskar; Seetam Kumar Tumulu; Kiran Polavarapu; Akshata Huddar; Gopikrishnan Unnikrishnan; Seena Vengalil; Saraswati Nashi; Vidya Nittur; Gautham Arunachal; Jitender Saini; Hanns Lochmuller; Atchayaram Nalini
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<i>MT-ATP6</i> variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review
err2025-11-12
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errOAAI
errLola ER Lessard; Danielle K Bourque; Pierre J Bourque; Hanns Lochmüller; Joaquin Machado; Giulia F Del Gobbo; Aren E Marshall; Ian C Smith; Kym M Boycott; Jodi Warman-Chardon; Ari Breiner
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EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
errBrain
IF11.7
err2025-10-07
err0
PREAI
errSaikat 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
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Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
err2025-09-12
err0
PREAI
errBenedikt Becker; Isabell Cordts; Jutta Becker; Rene Günther; Matthias Baumann; Günther Bernert; Astrid Eisenkölbl; Barbara Fiedler; Marina Flotats-Bastardas; Martin Fleger; Tim Hagenacker; Andreas Hahn; Elke Hobbiebrunken; Andrea Bevot; Jörg Jahnel; Jessika Johannsen; Christoph Kamm; Jan Christoph Koch; Cornelia Köhler; Heike Kölbel; Wolfgang Müller-Felber; Christoph Neuwirth; Barbara Plecko; Christian Stadler; Martin Smitka; Arpad Von Moers; Regina Trollmann; Markus Weiler; Andreas Ziegler; Susanne Goldbach; Kristina Probst-Schendzielorz; Hanns Lochmüller; Ulrike Schara-Schmidt; Maggie C Walter; Janbernd Kirschner; Brunhilde Wirth; Astrid Pechmann; Marcus Deschauer
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Bullying experiences of youth with neuromuscular disorders and their well-being: A survey study
err2025-08-25
err0
errOAAI
errChristina Ippolito; Marc-Olivier Deguise; Hanns Lochmüller; Hugh J McMillan; Laura McAdam
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Congenital-onset MLASA2 from a novel <i>YARS2</i> variant: A literature review
err2025-08-14
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PREAI
errAstrid Eisenkölbl; Hanns Lochmüller; Melissa T Carter; Leslie E Hamilton; Hugh J McMillan
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Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice
err2025-08-01
err0
PREAI
errHolland, Stephen Henry; Carmona-Martinez, Ricardo; O'Neil, Daniel; Ho, Kelly; O'Connor, Kaela; Azuma, Yoshiteru; Roos, Andreas; Spendiff, Sally; Lochmueller, Hanns
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Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
err2025-07-16
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errOAAI
errJ Robert Harkness; John H McDermott; Shea Marsden; Peter Jamieson; Kay A Metcalfe; Naz Khan; William L Macken; Robert D S Pitceathly; Christopher J Record; Reza Maroofian; Kleopas Kleopa; Kyproula Christodoulou; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E Urquhart; Glenda M Beaman; Leigh A Demain; Adam Jackson; Alexander J M Blakes; Helen J Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W Yue; Robert W Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S Alkuraya; Rita Horvath; Serdal Gungor; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M Reilly; Daimark Bennett; Raymond T O’Keefe; William G Newman
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Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy - report of a national consensus workshop
err2025-05-13
err0
PREAI
errColleen O’Connell; Xavier Rodrigue; Victoria Hodgkinson; Katie Henley; Jeremy Slayter; Alberto Aleman; Dorothy Drost; Aaron Izenberg; Beth Knowles; Hanns Lochmüller; Marianne Nury; Erin O’Ferrall; Homira Osman; Kerri Schellenberg; Christen Shoesmith; Christine Stables; Susi Vander Wyk; Grace Westbury
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Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle
errBRAIN
IF11.7
err2025-05-01
err0
errOAAI
errMalaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns
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Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy
err2025-03-01
err0
PREAI
errPereira, Beatriz L.; Barbosa, Mariana; Granjo, Pedro; Lochmuller, Hanns; Videira, Paula A.
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