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Academic Journal

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

Authors : Maartje Pennings; Rowdy P. P. Meijer; Monique Gerrits

Subjects: 0301 basic medicine; MICRODUPLICATION; DNA Copy Number Variations

Source: Eur J Hum GenetEuropean Journal of Human Genetics, 31, 6, pp. 654-662

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Academic Journal

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Authors : Islay Thompson; Grace Yoon; Cyril Mignot ...

Subjects: 2716 Genetics (clinical); Phospholipid transfer protein; 03 medical and health sciences

Source: Orphanet J Rare DisOrphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)Orphanet Journal of Rare Diseases, 13, 1, pp. 86

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Academic Journal

Ethical Considerations of Unsolicited Medical Opinion in Movement Disorders

Authors : Rui Araújo; Jos J. Kole; Joaquim J. Ferreira

Subjects: Viewpoint; Radboudumc 0: Other Research IQ Healthcare; Radboud University Medical Center

Source: Mov Disord Clin PractMovement Disorders Clinical Practice, 10, 10, pp. 1470-1475

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Academic Journal

Construct Validity of the Observable Movement Quality Scale in Pediatrics: Hypothesis Testing of a Formative Measurement Model

Authors : Dekkers, L.M.A.; Janssen, A.J.W.M.; Donders, A.R.T.

Subjects: Radboudumc 18: Healthcare improvement science RIHS: Radboud Institute for Health Sciences; Male; Mitochondrial Diseases

Source: Phys TherPhysical Therapy, 100, 2, pp. 346-358

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Academic Journal

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

Authors : Lara M. Lange; Paulina González-Latapí; Rajasumi Rajalingam

Subjects: Parkinsonism; 03 medical and health sciences; 0302 clinical medicine

Source: Movement Disorders, 37, 5, pp. 905-935

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Academic Journal

The wisdom of our mentors: clinical pearls in movement disorders: clinical pearls in movement disorders

Authors : Araújo, Rui; Fearon, Conor; Balint, Bettina ...

Subjects: 2728 Neurology (clinical); Movement Disorders; Education, Medical

Source: Lancet Neurology, 22, 12, pp. 1108-1109

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Academic Journal

The Architecture of Contemporary Care Networks for Rare Movement Disorders: Leveraging the ParkinsonNet Experience

Authors : Warrenburg, B.P.C. van de; Tiemessen, M.H.J.; Munneke, M.

Subjects: Parkinson's disease; Neurology - Radboud University Medical Center; Radboud University Medical Center

Source: Front NeurolFrontiers in Neurology, Vol 12 (2021)Frontiers in Neurology, 12

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Academic Journal

Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases: outcome of surveys of the European Reference Network for Rare Neurological Diseases

Authors : Painous, C.; van Os, N.J.H.; Delamarre, A.

Subjects: 0301 basic medicine; Movement Disorders; Neurology - Radboud University Medical Center

Source: Eur J NeurolEuropean Journal of Neurology, 27, 8, pp. 1493-1500

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Academic Journal

Exploring the Relationship Between Movement Disorders and Physical Activity in Patients With Schizophrenia: An Actigraphy Study: An Actigraphy Study

Authors : Lydia E Pieters; Jeroen Deenik; Diederik E Tenback

Subjects: Adult; Male; Radboud University Medical Center

Source: Schizophr BullSchizophrenia Bulletin, 47, 4, pp. 906-914

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Academic Journal

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies

Authors : Sterre van der Veen; Gabrielle T.W. Tse; Alessandro Ferretti

Subjects: Adult; Brain Diseases; Movement Disorders

Source: Neurology, 101, 19, pp. E1884-E1892

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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Ethical Considerations of Unsolicited Medical Opinion in Movement Disorders

Construct Validity of the Observable Movement Quality Scale in Pediatrics: Hypothesis Testing of a Formative Measurement Model

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

The wisdom of our mentors: clinical pearls in movement disorders: clinical pearls in movement disorders

The Architecture of Contemporary Care Networks for Rare Movement Disorders: Leveraging the ParkinsonNet Experience

Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases: outcome of surveys of the European Reference Network for Rare Neurological Diseases

Exploring the Relationship Between Movement Disorders and Physical Activity in Patients With Schizophrenia: An Actigraphy Study: An Actigraphy Study

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies

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