Results 111 to 120 of about 5,990,156 (184)

Diagnostic value of molecular approach in screening for fragile X premutation cases. [PDF]

Ir J Med Sci, 2023
Refeat MM, El Saied MM, Abdel Raouf ER.
europepmc   +1 more source

Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome

, 2023
The supplemental materials include: • Table of physical health conditions • Regression models controlling for behavior problems exhibited by adolescents and adults with fragile X syndromeSupplemental materials for the article, "Health Effects of Sleep ...
Hong, Jinkuk, Berry-Kravis, Elizabeth M., Mailick, Marsha R., DaWalt, Leann Smith, Dembo, Robert S.   +4 more
core  

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

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

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

Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation

, 2010
The fragile X premutation is a tandem CGG trinucleotide repeat expansion on the FMR1 gene between 55 and 200 repeats in length. A CGG knock-in (CGG KI) mouse with CGG repeat lengths between 70 and 350 has been developed and used to characterize the ...
Berman, RF, Hunsaker, MR, Willemsen, Rob, Goodrich-Hunsaker, NJ, Rob Willemsen, Michael R. Hunsaker, Naomi J. Goodrich-Hunsaker, Robert F. Berman   +7 more
core   +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

Dopamine transporter imaging study in parkinsonism occurring in fragile X premutaion carriers

, 2005
The fragile X premutation is caused by an expansion of 55 to 200 repeats of the trinucleotide element (CGG)n located in the 5= UTR of the fragile X mental retardation 1 (FMR1) gene. A syndrome characterized by tremor, parkinsonism, and ataxia (FXTAS)
MURRI, LUIGI, KIFERLE L, BONUCCELLI, UBALDO, ROSSI C, GOLDWURM S, VOLTERRANI, DUCCIO, Bonuccelli U, ANTONINI A, CERAVOLO, ROBERTO, Murri L., Volterrani D, Ceravolo R, DI MARIA E   +12 more
core   +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