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Teresinha Evangelista

Newcastle University

103

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CHANNELOPATHIES AND RELATED DISORDERS

2021 Neuromuscular Disorders
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Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

2020
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First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC

2020 Human Mutation
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Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients.

2020 Scientific Reports
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MUSCLE FUNCTION & HOMEOSTASIS / MOLECULAR THERAPEUTIC APPROACHES

2020 Neuromuscular Disorders
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Table 3. [Oculopharyngeal Muscular Dystrophy: Genotype-Phenotype Correlations].

2020
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Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms

2020 Neuromuscular Disorders
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SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

2019 Journal of Medical Genetics
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CONGENITAL MYOPATHIES: RYR1 AND TITIN

2019 Neuromuscular Disorders
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237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018

2019 Neuromuscular Disorders
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