Výsledky vyhledávání - "Willem, De Ridder"

Distinct features in adult polyglucosan body disease

Autor: Jonathan De Winter, Gert Cypers, Edwin Jacobs, Stephanie Vanden Bossche, Tine Deconinck, Willem De Ridder, Sven Dekeyzer, Jonathan Baets

Publikováno v: Neuromuscular Disorders, 33(2), 148-152. Elsevier Ltd.
Neuromuscular disorders

Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b930ec3307f77e1d65fd1c2c5700a0
https://doi.org/10.1016/j.nmd.2022.12.016

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Akademický článek

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Publikováno v: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)

Abstract Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies

Externí odkaz: https://doaj.org/article/7b793b20033f4da8837130c6461f81e4

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

Autor: Jonathan Baets, Willem De Ridder, Peter De Jonghe, Volker Straub

Publikováno v: Neuromuscul Disord
Neuromuscular disorders

Sporadic late-onset nemaline myopathy (SLONM) is an enigmatic, supposedly very rare, putatively immune-mediated late-onset myopathy, typically presenting with subacutely progressive limb-girdle muscular weakness, yet slowly progressing cases have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3173088040fee8d85d7f324a2a05dee
https://doi.org/10.1016/j.nmd.2021.04.010

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Neurological features of Noonan syndrome and related RASopathies: Pain and nerve enlargement characterized by nerve ultrasound

Autor: Willem De Ridder, Baziel Engelen, Nens Alfen

Publikováno v: American journal of medical genetics : part A
American Journal of Medical Genetics. Part A, 188, 1801-1807
American Journal of Medical Genetics. Part A, 188, 6, pp. 1801-1807

Contains fulltext : 252092.pdf (Publisher’s version ) (Closed access) This study aimed to assess the nature of peripheral nervous system (PNS) involvement in three patients with Noonan syndrome (NS) or NS with multiple lentigines (NSML) as a relate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56652d09fe7dd469ae5e6075a9e9729e
https://pubmed.ncbi.nlm.nih.gov/35258168

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

Autor: Jan De Bleecker, Karel Heytens, L. Heytens, Willem De Ridder, Jonathan Baets

Publikováno v: Anaesthesia and intensive care

Some degree of exertional rhabdomyolysis (ER), striated muscle breakdown associated with strenuous exercise, is a well-known phenomenon associated with endurance sports. However in rare cases, severe and/or recurrent ER is a manifestation of an under

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8072ab60fa352593aa36577543a8ca90
https://doi.org/10.1177/0310057x19835830

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

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

Publikováno v: Brain

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c62b3f0a5a44914619f38830ad9f5e
https://pubmed.ncbi.nlm.nih.gov/33970200

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