Publications by authors named "Kristl Claeys"

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Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Gorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, Heinz Jungbluth, Anna Potulska-Chromik, Kristl G Claeys

Brain· December 2025

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Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey.
Teresinha Evangelista, Houda Ali, Charlotte Handberg, Thomas Sejersen, Ros Quinlivan, Kristl G Claeys

Orphanet J Rare Dis· December 2025

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Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.
Laura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, Penélope Romero-Duque, Elena Pegoraro, Kristl G Claeys

Ann Clin Transl Neurol· December 2025

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When the Diaphragm Fails: Visual Hallucinations Due to Isolated Respiratory Muscle Weakness as a First Manifestation of Late-Onset Pompe Disease.
Caroline Van Lierde, Mathieu Brancaleone, Tom Cornelis, Karolien Weytjens, Kristl Claeys

Eur J Case Rep Intern Med· November 2025

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Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.
Veronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, Anna Vihola, Helena Luque, Kristl G Claeys

Eur J Neurol· November 2025

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Kristl G Claeys

Brain· October 2025

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Automated Classification of Neuromuscular Diseases Using Thigh Muscle MRI With Model Interpretations.
Lotte Huysmans, Louise Iterbeke, Bram De Wel, Matthias Opsomer, Kristl G Claeys

J Cachexia Sarcopenia Muscle· October 2025

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Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.
Hani Kushlaf, Jordi Díaz-Manera, Drago Bratkovic, Barry J Byrne, Kristl G Claeys

Muscle Nerve· August 2025

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Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Marianela Schiava, Yolande Parkhurst, Matthew Henderson, Tuomo Polvikoski, Manouela V Valtcheva, Kristl G Claeys

Neurol Genet· August 2025

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Two-year Risdiplam treatment in adults with spinal muscular atrophy: improvements in motor and respiratory function, quality of life and fatigue.
Louise Iterbeke, Kristl G Claeys

Neuromuscul Disord· July 2025

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ADAPT NXT: Fixed Cycles or Every-Other-Week IV Efgartigimod in Generalized Myasthenia Gravis.
Ali A Habib, Kristl G Claeys, Vera Bril, Yessar Hussain, Kelly Gwathmey

Ann Clin Transl Neurol· June 2025

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What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review.
Katina Aleksovska, Theodoros Kyriakides, Corrado Angelini, Zohar Argov, Kristl G Claeys

Eur J Neurol· June 2025

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Kristl G Claeys

Genome Res· April 2025

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Fractures in Hereditary Neuromuscular Disorders: Frequency, Risk Factors, and Implications.
Matthias Opsomer, Louise Iterbeke, Herman Borghs, Tine De Cuyper, Marian Dejaeger, Kristl G Claeys

Eur J Neurol· March 2025

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Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
Pablo Iruzubieta, José Verdú-Díaz, Ana Töpf, Leonela Luce, Kristl G Claeys

J Neurol· January 2025

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Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.
Harmke A van Kooten, Mike C Horton, Stephan Wenninger, Haris Babačić, Benedikt Schoser, Kristl G Claeys

Eur J Neurol· December 2024

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Phenotype variability and therapeutic response to Patisiran in patients with hereditary transthyretin amyloidosis: a Belgian real-world experience.
Stephanie Delstanche, Kristl G Claeys, De Bleecker, Gauthier Remiche, Pierre Troisfontaines

Acta Clin Belg· December 2024

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IFN-α2 Autoantibody Screening and Functional Evaluation in Viral and Bacterial Infections.
Maaike Cockx, Sophie Steels, Birthe Michiels, Jan Van Elslande, Pieter Vermeersch, Kristl G Claeys

J Appl Lab Med· November 2024

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Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
Priya S Kishnani, Barry J Byrne, Kristl G Claeys, Jordi Díaz-Manera, Mazen M Dimachkie

J Patient Rep Outcomes· November 2024

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Test-retest reliability and follow-up of muscle magnetic resonance elastography in adults with and without muscle diseases.
Bram De Wel, Lotte Huysmans, Ronald Peeters, Stefan Ghysels, Kris Byloos, Kristl G Claeys

J Cachexia Sarcopenia Muscle· October 2024

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A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.
Kristl G Claeys, Marco Savarese, Per Harald Jonson, Veerle Goosens, Ana Topf

Neurol Genet· October 2024

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Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.
Nathalie Smeets, Alexander Gheldof, Bart Dequeker, Margaux Poleur, Sofia Maldonado Slootjes, Kristl G Claeys

Pediatr Neurol· September 2024

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Anti-Ku + myositis: an acquired inflammatory protein-aggregate myopathy.
Marie-Therese Holzer, Akinori Uruha, Andreas Roos, Andreas Hentschel, Anne Schänzer, Kristl G Claeys

Acta Neuropathol· July 2024

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FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.
Mana Momenilandi, Romain Lévy, Steicy Sobrino, Jingwei Li, Chantal Lagresle-Peyrou, Kristl G Claeys

Cell· May 2024

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Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Kristl G Claeys

medRxiv· May 2024

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