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Corien C. Verschuuren-Bemelmans

University Medical Center Groningen
University of Groningen

57

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Author response for "Clinical, genetic and histological features of Centronuclear Myopathy in the Netherlands"

2021
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Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

2021 Clinical Genetics
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Predictive genetic testing in Huntington's disease: should a neurologist be involved?

2020 European Journal of Human Genetics
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

2020 American Journal of Medical Genetics Part A
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Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers

2019 Experimental Brain Research
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De novo SPAST mutations may cause a complex SPG4 phenotype

2019 Brain
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Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders

2018
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Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences

2018 American Journal of Medical Genetics
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Muscle ultrasound comparison between patients with early and delayed onset Friedreich's ataxia – Preliminary data

2017 European Journal of Paediatric Neurology
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Dystonia‐deafness syndrome caused by a β‐actin gene mutation and response to deep brain stimulation

2017 Movement Disorders
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