نتایج جستجو برای: vialetto
تعداد نتایج: 62 فیلتر نتایج به سال:
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 ...
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...
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...
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...
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...
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...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید