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Motor assessment in patients with Duchenne muscular dystrophy.
TLDR
The MFM scale was a useful instrument in the follow up of patients with DMD and is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.
Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy
TLDR
DNA analyses in 47 pts with DMD revealed significant association between dilated cardiomyopathy (DCM) and specific exons and possible protection against DCM by other exons.
Biotinidase deficiency: clinical and diagnosis aspects and neonatal screening
TLDR
Biotinidase deficiency meets the World Health Organization criteria for neonatal screening because carriers are asymptomatic during this period of life, the disease’s high morbidity rate, and effective treatment with low cost.
Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy and preserved left ventricular ejection fraction - a randomized clinical trial
TLDR
It is shown that CMR can identify myocardial fibrosis (MF) even in the early stages of cardiomyopathy in MD before overt LV dysfunction, and the impact of treatment with ACE inhibitors in the progression of fibrosis in patients with MD and preserved LV function is still unknown.
Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes
TLDR
It is demonstrated that the MLPA technique is an alternative with a great diagnostic potential, and its use as part of the initial assessment of syndromic patients with seizures is proposed.
Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy
TLDR
Myocardial fibrosis detected by CMR progressively increases in patients with Duchenne and Becker muscular dystrophy over a period of 2.3 years, and occurs not only in Patients with more advanced cardiomyopathy and LV dysfunction, but also in patientswith normal function and no myocardial Fibrosis at the baseline CMR.
The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil.
TLDR
The translation of the N PMDS, and its adaptation to the socioeconomic and cultural conditions in Brazil, make the NPMDS score useful as an additional parameter in the evaluation and monitoring of pediatric patients with MD in Brazil.
Contents Vol. 7, 2016
Geert Mortier Department of Medical Genetics Antwerp University Hospital Prins Boudewijnlaan 43 B–2650 Antwerp (Belgium) Tel. +32 3 275 9773 (secretary) Tel. +32 3 275 9766 (direct) Fax +32 3 275