Search Results - "Goselink, Rianne J. M."

Neurological disorders of gait, balance and posture: a sign-based approach by Nonnekes, Jorik, Goselink, Rianne J. M., Růžička, Evžen, Fasano, Alfonso, Nutt, John G., Bloem, Bastiaan R.

“…In this article, Nonnekes and colleagues offer a new approach to the diagnosis of neurological disorders associated with altered gait, balance and posture…”
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Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study by Goselink, Rianne J.M., Schreuder, Tim H.A., van Alfen, Nens, de Groot, Imelda J.M., Jansen, Merel, Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Stoep, Nienke, Theelen, Thomas, Voermans, Nicol C., van der Maarel, Silvère M., van Engelen, Baziel G.M., Erasmus, Corrie E.

“…Objective Facioscapulohumeral dystrophy (FSHD) is one of the most frequent heritable muscular dystrophies, with a large variety in age at onset and disease…”
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Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD) by Goselink, Rianne J M, Schreuder, Tim H A, Mul, Karlien, Voermans, Nicol C, Pelsma, Maaike, de Groot, Imelda J M, van Alfen, Nens, Franck, Bas, Theelen, Thomas, Lemmers, Richard J, Mah, Jean K, van der Maarel, Silvère M, van Engelen, Baziel G, Erasmus, Corrie E

“…Facioscapulohumeral muscular dystrophy (FSHD; OMIM 158900 & 158901) is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant…”
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Respiratory pattern in a FSHD pediatric population by van Kernebeek, Caroline R, Seijger, Charlotte G.W, Goselink, Rianne J.M, Heijdra, Yvonne F, van Engelen, Baziel G.M

“…In our opinion the presented figure shows a gradual increase of expiratory flow, instead of flattening, during expiration. [...]we wonder whether the…”
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Transition to adult care in epilepsy: A systematic review by Goselink, Rianne J.M., Olsson, Ingrid, Malmgren, Kristina, Reilly, Colin

“…•Adequate transition from paediatric to adult care likely enhances medical and psychosocial outcomes for young people with epilepsy.•Multidisciplinary care,…”
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The difficulty of diagnosing NCSE in clinical practice; external validation of the Salzburg criteria by Goselink, Rianne J. M., van Dillen, Jeroen J., Aerts, Marjolein, Arends, Johan, van Asch, Charlotte, van der Linden, Inge, Pasman, Jaco, Saris, Christiaan G. J., Zwarts, Machiel, Alfen, Nens

“…To improve the diagnostic accuracy of electroencephalography (EEG) criteria for nonconvulsive status epilepticus (NCSE), external validation of the recently…”
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Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy by Goselink, Rianne J.M., Schreuder, Tim H.A., Mul, Karlien, Voermans, Nicol C., Erasmus, Corrie E., van Engelen, Baziel G.M., van Alfen, Nens

“…OBJECTIVEWith drug trials starting soon, responsive, relevant, and patient-friendly biomarkers are highly needed in facioscapulohumeral dystrophy (FSHD). Our…”
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Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy by Goselink, Rianne J.M, Mul, Karlien, van Kernebeek, Caroline R, Lemmers, Richard J.L.F, van der Maarel, Silvère M, Schreuder, Tim H.A, Erasmus, Corrie E, Padberg, George W, Statland, Jeffrey M, Voermans, Nicol C, van Engelen, Baziel G.M

“…OBJECTIVETo assess the relation between age at onset and disease severity in facioscapulohumeral muscular dystrophy (FSHD). METHODSIn this prospective…”
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Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up by Dijkstra, Jildou N., Goselink, Rianne J.M., van Alfen, Nens, de Groot, Imelda J.M., Pelsma, Maaike, van der Stoep, Nienke, Theelen, Thomas, van Engelen, Baziel G.M., Voermans, Nicol C., Erasmus, Corrie E.

“…Data on the natural history of facioscapulohumeral dystrophy (FSHD) in childhood are limited and critical for improved patient care and clinical trial…”
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Transitioning from paediatric to adult care in epilepsy: A qualitative study of adolescent experiences by Goselink, Rianne JM, Eklund, Anna, Olsson, Ingrid, Hallböök, Tove, Malmgren, Kristina, Reilly, Colin

“…•Transfer to adult care in epilepsy is experienced as an unstructured event.•Adolescents and their primary caregivers are worried and uncertain during this…”
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Response: The difficulty of diagnosing nonconvulsive status epilepticus in clinical practice by Goselink, Rianne J. M., Dillen, Jeroen J., Zwarts, Machiel, Alfen, Nens

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Early onset facioscapulohumeral dystrophy – a systematic review using individual patient data by Goselink, Rianne J.M., Voermans, Nicol C., Okkersen, Kees, Brouwer, Oebele F., Padberg, George W., Nikolic, Ana, Tupler, Rossella, Dorobek, Malgorzata, Mah, Jean K., van Engelen, Baziel G.M., Schreuder, Tim H.A., Erasmus, Corrie E.

“…•Comprehensive overview of all published individual patient data on early onset FSHD.•At a mean age of 19 years, 40% is wheelchair dependent.•Half of the…”
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A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy by Goselink, Rianne J.M., van Kernebeek, Caroline R., Mul, Karlien, Lemmers, Richard J.L.F., van der Maarel, Silvère M., Brouwer, Oebele F., Voermans, Nicol, Padberg, George W., Erasmus, Corrie E., van Engelen, Baziel G.M.

“…To assess the long-term natural course of early-onset facioscapulohumeral dystrophy (FSHD), which is important for patient management and trial-readiness, and…”
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Ophthalmological findings in facioscapulohumeral dystrophy by Goselink, Rianne J M, Schreur, Vivian, van Kernebeek, Caroline R, Padberg, George W, van der Maarel, Silvère M, van Engelen, Baziel G M, Erasmus, Corrie E, Theelen, Thomas

“…Ophthalmological abnormalities in facioscapulohumeral dystrophy may lead to treatable vision loss, facilitate diagnostics, could help unravelling the…”
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Beriberi after bariatric surgery by Goselink, Rianne J M, Harlaar, Joris J, Vermeij, Frederique H, Biter, Ulas L U, Mannaerts, Guido H H, den Heijer, Tom

“…Bariatric surgery is in general the only effective treatment for morbid obesity. Bariatric surgery is frequently associated with vitamin and mineral…”
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