Source: American Journal of Human Genetics, 110, 6, pp. 963-978Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R, de Vries, B B A, van Jaarsveld, R H,

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The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes

Authors : Joost Kools; Johanna CW Deenen; Anna M Blokhuis

Subjects: Radboudumc 17: Women's cancers Health Evidence; Radboud University Medical Center; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Source: Neuromuscular Disorders, 33, 12, pp. 964-971

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Effects of oral anticoagulation in people with atrial fibrillation after spontaneous intracranial haemorrhage (COCROACH): prospective, individual participant data meta-analysis of randomised trials: prospective, individual participant data meta-analysis of randomised trials

Authors : Al-Shahi Salman, Rustam; Stephen, Jacqueline; Tierney, Jayne F ...

Subjects: [SDV]Life Sciences [q-bio]; Radboud University Medical Center; Anticoagulants

Source: Lancet Neurology, 22, 12, pp. 1140-1149Al-Shahi Salman, R, Stephen, J, Tierney, J F, Lewis, S C, Newby, D E, Parry-Jones, A R, White, P M, Connolly, S J, Benavente, O R, Dowlatshahi, D,

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The inflammatory potential of diet is associated with the risk of age-related eye diseases

Authors : Joëlle E. Vergroesen; Eric F. Thee; Tosca O.E. de Crom

Subjects: Inflammation; Rotterdam Study; Age-related macular degeneration

Source: Clinical Nutrition, 42, 12, pp. 2404-2413

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Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy

Authors : S.C.C. Vincenten; S. Teeselink; N.C. Voermans

Subjects: Radboud University Medical Center; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Source: Neuromuscular Disorders, 33, 12, pp. 936-944

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Apathy is associated with striatal atrophy and cognitive impairment in cerebral small vessel disease

Authors : Li, H.; Cui, L.; Wang, Meng

Subjects: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience; Apathy; 220 Statistical Imaging Neuroscience

Source: Journal of Affective Disorders, 328, pp. 39-46

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Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Authors : Kaltak, Melita; de Bruijn, Petra; Piccolo, Davide

Subjects: 0301 basic medicine; Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience; retinal organoids

Source: Mol Ther Nucleic AcidsMolecular Therapy: Nucleic Acids, Vol 31, Iss, Pp 674-688 (2023)Molecular Therapy-Nucleic Acids, 31, pp. 674-688Molecular Therapy Nucleic Acids

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Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease

Authors : Dennis T. Famili; Miguel A. Fernandez-Garcia; Maria Vanegas

Subjects: Fibromyalgia; Radboud University Medical Center; Humans

Source: Neuromuscular Disorders, 33, 11, pp. 866-872

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A human in vitro neuronal model for studying homeostatic plasticity at the network level

Authors : Yuan, X.; Puvogel Lütjens, S.; van Rhijn, J.

Subjects: Neurons; Neuronal Plasticity; Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Source: Stem Cell ReportsStem Cell Reports, 18, 11, pp. 2222-2239

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Respiratory features of centronuclear myopathy in the Netherlands

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes

Effects of oral anticoagulation in people with atrial fibrillation after spontaneous intracranial haemorrhage (COCROACH): prospective, individual participant data meta-analysis of randomised trials: prospective, individual participant data meta-analysis of randomised trials

The inflammatory potential of diet is associated with the risk of age-related eye diseases

Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy

Apathy is associated with striatal atrophy and cognitive impairment in cerebral small vessel disease

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease

A human in vitro neuronal model for studying homeostatic plasticity at the network level

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