Hanns Lochmüller (Hanns Lochmuller)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 54

Top Venues

Nature communications

Journal of neurology

Neurology

Neurology. Genetics

Children's Hospital of Eastern Ontario Research Institute

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Children's Hospital of Eastern Ontario Research Institute Aug 01 2018

Canada

Senior Scientist

Newcastle University Jul 01 2007 - Dec 31 2017

United Kingdom

Chair of Experimental Myology :: Institute of Genetic Medicine

Publications

Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller, Rita Horvath
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. Journal of neurology 271 (6) (2024)
Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller, Rita Horvath
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. Journal of neurology (2024)
Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller, Rita Horvath
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. Journal of neurology 271 (6) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller, Rita Horvath
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. Journal of neurology 271 (6) (2024)
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Janneke M 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 T Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, null null, null null, null null, null null, Leslie Matalonga, Steven Laurie, Han G Brunner, Holm Graessner, Sergi Beltran, Stephan Ossowski, Lisenka E L M Vissers, Christian Gilissen, Alexander Hoischen
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv : the preprint server for health sciences (2024)
Dipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Ana Topf, Aneesha Thomas, Sai Bhargava Sanka, Deepak Menon, Kosha Srivastava, Gautham Arunachal, Bevinahalli N Nandeesh, Hanns Lochmüller, Atchayaram Nalini
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. Neurology. Genetics 10 (1) (2024)
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O'Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A C 't Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O'Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A C 't Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Dipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Ana Topf, Aneesha Thomas, Sai Bhargava Sanka, Deepak Menon, Kosha Srivastava, Gautham Arunachal, Bevinahalli N Nandeesh, Hanns Lochmüller, Atchayaram Nalini
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. Neurology. Genetics 10 (1) (2024)
Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio, Ida Paramonov, Hanns Lochmüller, Rita Horvath
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. Journal of neurology 271 (6) (2024)
Dipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Ana Topf, Aneesha Thomas, Sai Bhargava Sanka, Deepak Menon, Kosha Srivastava, Gautham Arunachal, Bevinahalli N Nandeesh, Hanns Lochmüller, Atchayaram Nalini
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. Neurology. Genetics 10 (1) (2024)
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O'Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A C 't Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nature communications 15 (1) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Ozlem Herguner, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Hugh J Mcmillan, Hanns Lochmüller
Sustained clinical benefit following systemic gene replacement therapy in Duchenne muscular dystrophy. Muscle & nerve (2023)
Ian C Smith, Chantal A Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J Mcmillan, Marcos Loreto Sampaio, Gerd Melkus, John M Woulfe, Gaganvir Parmar, Pierre Raymond Bourque, Thanh B Nguyen, Jocelyn Christine Zwicker, C Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A Dyment, Bernard Brais, Kym M Boycott, null null, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy. Neurology. Genetics 9 (1) (2023)
Jean-Philippe Leduc-Gaudet, Anais Franco-Romero, Marina Cefis, Alaa Moamer, Felipe E Broering, Giulia Milan, Roberta Sartori, Tomer Jordi Chaffer, Maude Dulac, Vincent Marcangeli, Dominique Mayaki, Laurent Huck, Anwar Shams, José A Morais, Elise Duchesne, Hanns Lochmüller, Marco Sandri, Sabah N A Hussain, Gilles Gouspillou
MYTHO is a novel regulator of skeletal muscle autophagy and integrity. Nature communications 14 (1) (2023)
Jean-Philippe Leduc-Gaudet, Anais Franco-Romero, Marina Cefis, Alaa Moamer, Felipe E Broering, Giulia Milan, Roberta Sartori, Tomer Jordi Chaffer, Maude Dulac, Vincent Marcangeli, Dominique Mayaki, Laurent Huck, Anwar Shams, José A Morais, Elise Duchesne, Hanns Lochmüller, Marco Sandri, Sabah N A Hussain, Gilles Gouspillou
MYTHO is a novel regulator of skeletal muscle autophagy and integrity. Nature communications 14 (1) (2023)
Erik Landfeldt, Kim Phung, Farasat Zaman, Eva Åström, Sophia Abner, Hanns Lochmüller, Thomas Sejersen, Leanne M Ward
Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence Neurology 102 (2) (2023)
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R W Mann, Pierre Raymond Bourque, Thanh B Nguyen, Hanns Lochmüller, John M Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A Dyment, Kym M Boycott, Kristin Kernohan
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurology. Genetics 9 (5) (2023)
Erik Landfeldt, Kim Phung, Farasat Zaman, Eva Åström, Sophia Abner, Hanns Lochmüller, Thomas Sejersen, Leanne M Ward
Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence Neurology 102 (2) (2023)
Jean-Philippe Leduc-Gaudet, Anais Franco-Romero, Marina Cefis, Alaa Moamer, Felipe E Broering, Giulia Milan, Roberta Sartori, Tomer Jordi Chaffer, Maude Dulac, Vincent Marcangeli, Dominique Mayaki, Laurent Huck, Anwar Shams, José A Morais, Elise Duchesne, Hanns Lochmüller, Marco Sandri, Sabah N A Hussain, Gilles Gouspillou
MYTHO is a novel regulator of skeletal muscle autophagy and integrity. Nature communications 14 (1) (2023)
Jean-Philippe Leduc-Gaudet, Anais Franco-Romero, Marina Cefis, Alaa Moamer, Felipe E Broering, Giulia Milan, Roberta Sartori, Tomer Jordi Chaffer, Maude Dulac, Vincent Marcangeli, Dominique Mayaki, Laurent Huck, Anwar Shams, José A Morais, Elise Duchesne, Hanns Lochmüller, Marco Sandri, Sabah N A Hussain, Gilles Gouspillou
MYTHO is a novel regulator of skeletal muscle autophagy and integrity. Nature communications 14 (1) (2023)
Erik Landfeldt, Kim Phung, Farasat Zaman, Eva Åström, Sophia Abner, Hanns Lochmüller, Thomas Sejersen, Leanne M Ward
Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy. Neurology 102 (2) (2023)
Erik Landfeldt, Kim Phung, Farasat Zaman, Eva Åström, Sophia Abner, Hanns Lochmüller, Thomas Sejersen, Leanne M Ward
Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy. Neurology 102 (2) (2023)
Leigh C Carmody, Michael A Gargano, Sabrina Toro, Nicole A Vasilevsky, Margaret P Adam, Hannah Blau, Lauren E Chan, David Gomez Andres, Rita Horvath, Megan L Kraus, Markus S Ladewig, David Lewis-Smith, Hanns Lochmüller, Nicolas A Matentzoglu, Monica C Munoz-Torres, Catharina Schuetz, Berthold Seitz, Morgan N Similuk, Teresa N Sparks, Timmy Strauß, Emilia M Swietlik, Rachel Thompson, Xingmin Aaron Zhang, Christopher John Mungall, Melissa A Haendel, Peter Nick Robinson
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease. medRxiv : the preprint server for health sciences (2023)
Erik Landfeldt, Kim Phung, Farasat Zaman, Eva Åström, Sophia Abner, Hanns Lochmüller, Thomas Sejersen, Leanne M Ward
Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence Neurology 102 (2) (2023)
Jean-Philippe Leduc-Gaudet, Anais Franco-Romero, Marina Cefis, Alaa Moamer, Felipe E Broering, Giulia Milan, Roberta Sartori, Tomer Jordi Chaffer, Maude Dulac, Vincent Marcangeli, Dominique Mayaki, Laurent Huck, Anwar Shams, José A Morais, Elise Duchesne, Hanns Lochmüller, Marco Sandri, Sabah N A Hussain, Gilles Gouspillou
MYTHO is a novel regulator of skeletal muscle autophagy and integrity. Nature communications 14 (1) (2023)
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R W Mann, Pierre Raymond Bourque, Thanh B Nguyen, Hanns Lochmüller, John M Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A Dyment, Kym M Boycott, Kristin Kernohan
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurology. Genetics 9 (5) (2023)
Paulo José Lorenzoni, Renata Dal-Prá Ducci, Raquel Cristina Arndt, Nyvia Milicio Coblinski Hrysay, Otto Jesus Hernández Fustes, Ana Topf, Hanns Lochmüller, Lineu Cesar Werneck, Cláudia Suemi Kamoi Kay, Rosana Hermínia Scola
Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis. Arquivos de neuro-psiquiatria 80 (1) (2022)
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernandez-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José María Fernandez, Mats G Hansson, Rita Horvath, Julius O B Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada-de-la-Paz, Jordi Rambla De Argila, Ana Rath, Olaf H Rieß, Peter Nick Robinson, David Salgado, Damian Smedley, J Dylan Spalding, Peter A C 't Hoen, Ana Topf, Irina T Zaharieva, Holm Graessner, Ivo Glynne Gut, Hanns Lochmüller, Sergi Beltran
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human mutation 43 (6) (2022)
Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer-Zirnsak
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. Journal of inherited metabolic disease 44 (4) (2021)
Ana Töpf, Yavuz Oktay, Sunitha Balaraju, Elmasnur Yilmaz, Ece Sonmezler, Uluc Yis, Steven Laurie, Rachel Thompson, Andreas Roos, Daniel G MacArthur, Ahmet Yaramis, Serdal Güngör, Hanns Lochmüller, Semra Hiz, Rita Horvath
Severe neurodevelopmental disease caused by a homozygous TLK2 variant. European journal of human genetics : EJHG 28 (3) (2021)
Hanns Lochmüller, Antonio Nino Ramirez, Emil Kakkis
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders. Orphanet journal of rare diseases 16 (1) (2021)
Rachel Thompson, Anastasios Papakonstantinou Ntalis, Sergi Beltran, Ana Töpf, Eduardo de Paula Estephan, Kiran Polavarapu, Peter A C 't Hoen, Paolo Missier, Hanns Lochmüller
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Human mutation 40 (10) (2019)
Emily O'Connor, George Cairns, Sally Spendiff, David Burns, Stefan Hettwer, Armin Mäder, Juliane Müller, Rita Horvath, Clarke Slater, Andreas Roos, Hanns Lochmüller
Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish. Cells 8 (8) (2019)
Julien Oury, Yun Liu, Ana Töpf, Slobodanka Todorovic, Esthelle Hoedt, Veeramani Preethish-Kumar, Thomas A Neubert, Weichun Lin, Hanns Lochmüller, Steven J Burden
MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. The Journal of cell biology 218 (5) (2019)
Sarah A Cumming, Aura Cecilia Jimenez-Moreno, Kees Okkersen, Stephan Wenninger, Ferroudja Daidj, Fiona Hogarth, Roberta Littleford, Gráinne Siobhan Gorman, Guillaume Bassez, Benedikt Schoser, Hanns Lochmüller, Baziel G M van Engelen, Darren G Monckton, null null
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology 93 (10) (2019)
Mirko Signorelli, Burcu Ayoglu, Camilla Johansson, Hanns Lochmüller, Volker Straub, Francesco Muntoni, Erik H Niks, Roula Tsonaka, Anja Persson, Annemieke M Aartsma-Rus, Peter Nilsson, Cristina Al-Khalili Szigyarto, Pietro Spitali
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. Journal of cachexia, sarcopenia and muscle 11 (2) (2019)
Aura Cecilia Jimenez-Moreno, Nikoletta Nikolenko, Marie Kierkegaard, Alasdair P Blain, Jane Newman, Charlotte Massey, Dionne Moat, Jas Sodhi, Antonio Atalaia, Grainne S Gorman, Chris Turner, Hanns Lochmüller
Analysis of the functional capacity outcome measures for myotonic dystrophy. Annals of clinical and translational neurology 6 (8) (2019)
Sabina Gainotti, Paola Torreri, Chiuhui Mary Wang, Robert Reihs, Heimo Mueller, Emma Heslop, Marco Roos, Dorota Mazena Badowska, Federico de Paulis, Yllka Kodra, Claudio Carta, Estrella Lopez Martìn, Vanessa Rangel Miller, Mirella Filocamo, Marina Mora, Mark Thompson, Yaffa Rubinstein, Manuel Posada-de-la-Paz, Lucia Monaco, Hanns Lochmüller, Domenica Taruscio
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. European journal of human genetics : EJHG 26 (5) (2018)
Hanns Lochmüller, Dorota M Badowska, Rachel Thompson, Nine V Knoers, Annemieke M Aartsma-Rus, Ivo Glynne Gut, Libby Wood, Tina Harmuth, Andre Durudas, Holm Graessner, Franz Schaefer, Olaf Riess, null null, null null, null null
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. European journal of human genetics : EJHG 26 (6) (2018)
Silvia Cipriani, Vietxuan Phan, Jean-Jacques Médard, Rita Horvath, Hanns Lochmüller, Roman Chrast, Andreas Roos, Sally Spendiff
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. International journal of molecular sciences 19 (12) (2018)
Erik Landfeldt, Josefin Edström, Filippo Buccella, Janbernd Kirschner, Hanns Lochmüller
Duchenne muscular dystrophy and caregiver burden: a systematic review. Developmental medicine and child neurology 60 (10) (2018)
Ingrid E C Verhaart, Agata Robertson, Rebecca Leary, Grace McMacken, Kirsten König, Janbernd Kirschner, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
A multi-source approach to determine SMA incidence and research ready population. Journal of neurology 264 (7) (2017)
Ingrid E C Verhaart, Agata Robertson, Ian J Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet journal of rare diseases 12 (1) (2017)
Grace McMacken, Roger G Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. Journal of neurology 265 (1) (2017)
Hanns Lochmüller, Josep Torrent I Farnell, Yann Le Cam, Anneliene H Jonker, Lilian Pl Lau, Gareth Baynam, Petra Kaufmann, Hugh Js Dawkins, Paul Lasko, Christopher P Austin, Kym M Boycott, null null
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact. European journal of human genetics : EJHG 25 (12) (2017)

Hanns Lochmüller.css-eqlu8i{font-size:small;padding-left:4px;} (Hanns Lochmuller)

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Hanns Lochmüller (Hanns Lochmuller)