Teresinha Evangelista


Ontology type: schema:Person     


Person Info

NAME

Teresinha

SURNAME

Evangelista

Publications in SciGraph latest 50 shown

  • 2021-06-01 Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-03-22 Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome in ORPHANET JOURNAL OF RARE DISEASES
  • 2021-02-10 Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe in ORPHANET JOURNAL OF RARE DISEASES
  • 2020-10-16 Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients in SCIENTIFIC REPORTS
  • 2020-08-12 A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome in ORPHANET JOURNAL OF RARE DISEASES
  • 2019-07-02 HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes in JOURNAL OF NEUROLOGY
  • 2017-11-30 Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients in JOURNAL OF NEUROLOGY
  • 2017-09-06 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2017-05-26 Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy in JOURNAL OF NEUROLOGY
  • 2017-01-10 Reduced serum myostatin concentrations associated with genetic muscle disease progression in JOURNAL OF NEUROLOGY
  • 2016-05-09 Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry in JOURNAL OF NEUROLOGY
  • 2016-02-24 The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-01-11 KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors in JOURNAL OF NEUROLOGY
  • 2014-11-11 UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-07-10 New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy in JOURNAL OF HUMAN GENETICS
  • 2011-04-01 Apoptosis and insulin resistance in liver and peripheral tissues of morbidly obese patients is associated with different stages of non-alcoholic fatty liver disease in DIABETOLOGIA
  • 2010-06-10 Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51 in JOURNAL OF HUMAN GENETICS
  • 2008-02-19 Botulinum toxin type-B improves sialorrhea and quality of life in bulbaronset amyotrophic lateral sclerosis in JOURNAL OF NEUROLOGY
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