Results 111 to 120 of about 3,802 (188)

IGF2BPs directly regulate the noncanonical translation of toxic proteins from mutant FMR1 mRNA containing expanded CGG repeats

Nature Communications
Mutant mRNA of the fragile X messenger ribonucleoprotein 1 gene (FMR1) containing expanded CGG repeats in its 5’UTR is a primary cause of fragile X premutation associated conditions.
Anna Baud, Damini Saha, Tomasz Skrzypczak, Izabela Broniarek, Daria Niewiadomska, Wojciech J. Szlachcic, Malgorzata Borowiak, Rajani Kanth Gudipati, Krzysztof Sobczak   +8 more
doaj   +1 more source

Case Series of Vestibular Migraine in Fragile X Premutation Carriers [PDF]

This case series plus review seeks to describe the clinical characteristics and pathophysiology of VM among individuals with the fragile X premutation.
Hagerman, Randi, Tak, YeEun, Tassone, Flora   +2 more
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Fragile X Syndrome

Journal of Health Science and Medical Research (JHSMR), 2012
Fragile X syndrome (FXS) is the most common X-linked mental retardation disorder. Most patients are males. In Thailand, the incidence of FXS in boys with mental retardation or delayed development is approximately 7%.
Ninlapa Pruksanusak, Pornprot Limprasert
doaj  

Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation. [PDF]

Front Neurol, 2022
Wang JY, Grigsby J, Placido D, Wei H, Tassone F, Kim K, Hessl D, Rivera SM, Hagerman RJ.   +8 more
europepmc   +1 more source

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation. [PDF]

BMC Womens Health, 2022
Meraj N, Yasin M, Rehman ZU, Tahir H, Jadoon H, Khan N, Shahid R, Zubair M, Zulfiqar I, Jabeen M, Neelam S, Hameed A, Saleha S.   +12 more
europepmc   +1 more source

Tremor and ataxia in fragile X premutation carriers: blinded videotape study

, 2003
Fragile X premutation carriers do not have typical fragile X syndrome (FXS) although late-onset progressive action tremor and gait disorder with CNS atrophy was recently reported in male carriers.
Hagerman, Paul, Leehey, Maureen, Hagerman, Randi, Goetz, Christopher G, Berry-Kravis, Elizabeth, Wuu, Joanne, Lewin, Foster   +6 more
core   +1 more source

Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series. [PDF]

J Med Genet, 2022
Tassanakijpanich N, McKenzie FJ, McLennan YA, Makhoul E, Tassone F, Jasoliya MJ, Romney C, Petrasic IC, Napalinga K, Buchanan CB, Hagerman P, Hagerman R, Casanova EL.   +12 more
europepmc   +1 more source

Is Current Fragile X Syndrome Counseling Enough? Expanding the Clinical Phenotype of Fragile X in Premutation And Intermediate Allele Carriers

, 2018
Fragile X syndrome (FXS) is caused by a triplet repeat expansion on the FMR1 gene. Individuals with \u3e200 repeats have FXS, while individuals between 45-54 and 55- 200 repeats have the FMR1 intermediate allele and premutation, respectively.
Saadat Girnary, Zahra
core  

Dementia in Fragile X-associated Tremor/Ataxia Syndrome

Dementia & Neuropsychologia
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic ...
Ricardo Nitrini, Márcia Rúbia R. Gonçalves, Leonardo P. Capelli, Egberto Reis Barbosa, Cláudia Sellitto Porto, Edson Amaro, Paulo Alberto Otto, Angela M. Vianna-Morgante   +7 more
doaj   +1 more source

[Progressive ataxia and cognitive deficits caused by premutation in the fragile-X-mental retardation gene]

, 2005
Contains fulltext : 48118.pdf (Publisher’s version ) (Open Access)A 75-year-old man had progressive difficulty with walking, intention tremor, ataxia, and mild cognitive deficits. MRI scan ofthe brain showed symmetrical hyperintensities
Nijssen, P.C., Roks, G., Vries, L.B.A. de, Sistermans, E.A.   +3 more
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