نتایج جستجو برای: van laere

تعداد نتایج: 71369  

Journal: :European Journal of Neurology 2021

Background Brown−Vialetto−Van Laere syndrome (BVVLS) and Fazio−Londe disease (FLD) are rare neurological disorders presenting with pontobulbar palsy, muscle weakness respiratory insufficiency. Mutations in SLC52A2 (hRFVT-2) or SLC52A3 (hRFVT-3) genes can be responsible for these an autosomal recessive pattern of inheritance. The aim this study was to screen mutations among Indian families diagn...

2012
Annet M Bosch Kevin Stroek Nico G Abeling Hans R Waterham Lodewijk IJlst Ronald JA Wanders

The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients the disease is caused by mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transpo...

Journal: :Human molecular genetics 2016
Atsushi Intoh Naoki Suzuki Kathryn Koszka Kevin Eggan

Riboflavin, also known as vitamin B2, is essential for cellular reduction-oxidation reactions, but is not readily synthesized by mammalian cells. It has been proposed that riboflavin absorption occurs through solute carrier family 52 members (SLC52) A1, A2 and A3. These transporters are also candidate genes for the childhood onset-neural degenerative syndrome Brown-Vialetto-Van Laere (BVVL). Al...

2013
Atchayaram Nalini Amelie Pandraud Kin Mok Henry Houlden

INTRODUCTION Madras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India. The characteristic features are onset in young, weakness and wasting of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. There is a considerable overlap in the phenotype of MMND with Brown-Via...

2010
F. Tortereau H. Gilbert H.C.M. Heuven J. P. Bidanel M.A.M. Groenen J. Riquet

Backfat thickness (BFT) is an economically important trait for which various QTL have been detected. Two analyses of similar Meishan x European F2 pedigrees carried out in France and in The Netherlands gave different results concerning the position and the imprinting status of a QTL detected in the telomeric part of SSC2. In 2000, de Koning et al. described a paternally expressed QTL at 36 cM o...

2017
Federica Rizzo Agnese Ramirez Claudia Compagnucci Sabrina Salani Valentina Melzi Andreina Bordoni Francesco Fortunato Alessia Niceforo Nereo Bresolin Giacomo P. Comi Enrico Bertini Monica Nizzardo Stefania Corti

Riboflavin is essential in numerous cellular oxidation/reduction reactions but is not synthesized by mammalian cells. Riboflavin absorption occurs through the human riboflavin transporters RFVT1 and RFVT3 in the intestine and RFVT2 in the brain. Mutations in these genes are causative for the Brown-Vialetto-Van Laere (BVVL), childhood-onset syndrome characterized by a variety of cranial nerve pa...

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