Spontaneous intracranial hypotension in a patient with classical type Ehlers-Danlos syndrome

Autor: NC Voermans, W. J. H. M Grosveld, HJ Gilhuis

Publikováno v: Neurology India. 59:633

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6c822964d7bba12583d18f9d171f526a
https://doi.org/10.4103/0028-3886.84357

Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.

Autor: van Haaren-Pater R; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Karazi W; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Maas D; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Bloemen B; Department of IQ Health, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Voet N; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Rehabilitation center Klimmendaal, Arnhem, the Netherlands., van Oorsouw R; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, London, United Kingdom., Bhai S; Department of Neurology, the University of Texas Southwestern Medical Center, Dallas, TX, USA., Wakelin A; International Association for Muscle, Glycogen Storage Disease c/o Noble Accounting LLC, Torrance, CA, USA., Reason S; International Association for Muscle, Glycogen Storage Disease c/o Noble Accounting LLC, Torrance, CA, USA., Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Cup E; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Publikováno v: Disability and rehabilitation [Disabil Rehabil] 2024 Nov 11, pp. 1-8. Date of Electronic Publication: 2024 Nov 11.

The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.

Autor: Vincenten SCC; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., van Doorn JLM; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Teeselink S; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Rasing NB; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Padberg GW; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., van Engelen BGM; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., van Alfen N; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Mul K; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Muscle & nerve [Muscle Nerve] 2024 Nov; Vol. 70 (5), pp. 1062-1071. Date of Electronic Publication: 2024 Sep 19.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

Autor: de Laat ECM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Houwen-van Opstal SLS; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Doorn JLM; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Cameron D; Department of Radiology, Clinical Neuromuscular Imaging Group, Radboud University Medical Center, Nijmegen, The Netherlands., van Alfen N; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Dittrich ATM; Department of Pediatrics, Radboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Smeets HJM; Department of Toxicogenomics, Research Institutes MHeNS and GROW, Maastricht University, Maastricht, The Netherlands., Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Erasmus CE; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. nicol.voermans@radboudumc.nl.

Publikováno v: BMC neurology [BMC Neurol] 2024 Oct 23; Vol. 24 (1), pp. 409. Date of Electronic Publication: 2024 Oct 23.

A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.

Autor: van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., van de Camp SAJH; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Nijmegen, the Netherlands., Erasmus CE; Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center- Amalia Children's Hospital, Nijmegen, the Netherlands., Gaytant MA; Center for Home Mechanical Ventilation, Department of Pulmonology, University Medical Center Utrecht, Utrecht, the Netherlands., Vosse BAH; Department of Pulmonary Diseases, Maastricht University Medical Center, Maastricht, the Netherlands., de Weerd W; Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands., Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Medici-Van den Herik EG; Department of Paediatric Neurology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands., Wallgren-Pettersson C; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Küsters B; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands., Schouten M; Department of Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, the Netherlands., Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl.

Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Oct; Vol. 43, pp. 29-38. Date of Electronic Publication: 2024 Aug 03.