نتایج جستجو برای: vialetto

تعداد نتایج: 62  

Journal: :genetics in the 3rd millennium 0
سمیرا یادگاری samira yadegari department of neurology, shariati hospital, tehran university of medical sciences, tehran, iran شهریار نفیسی shahriar nafissi

brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder of unknown etiology considered to be a form of motor neuron diseases. this syndrome is characterized by bilateral deafness and involvement of lower cranial nerves, especially 7th-12th. umn signs are less frequent. until 2007, only fifty eight cases were reported. half of the reported cases were sporadic. in the remaining ...

Journal: :Neurobiology of disease 2012
Paloma González-Pérez Yubing Lu Ru-Ju Chian Peter C Sapp Rudolph E Tanzi Lars Bertram Diane McKenna-Yasek Fen-Biao Gao Robert H Brown

UNLABELLED Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS). OBJECTIVE To test if genetic variants in UBQLN1 are involved in ALS. METHODS 102 and 94 unrelated patients with familial and sporadic forms of ALS were screened for UBQLN1 gene mutations. Single nucleot...

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...

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...

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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