Results 151 to 160 of about 3,423 (189)

Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation. [PDF]

Front Neurol
Loesch DZ, Atkinson A, Hall DA, Tassone F, Stimpson P, Storey E.   +5 more
europepmc   +1 more source

Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology. [PDF]

Int J Mol Sci
Paracuellos-Ayala I, Caruana G, Reyes Ortega MM, Hagerman RJ, Wang JY, Rodriguez-Revenga L, Elias-Mas A.   +6 more
europepmc   +1 more source

Cognitive dysfunction in women with the <i>FMR1</i> premutation during midlife: The LASSI-L reveals curvilinear CGG-dependent risk buffered by college education. [PDF]

J Alzheimers Dis
Klusek J, Gierman J, Fairchild AJ, Benitez AM, Berry-Kravis E, Mailick MR.   +5 more
europepmc   +1 more source

Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy. [PDF]

Orphanet J Rare Dis
Montanaro FAM, Alfieri P, Caciolo C, Brunetti A, Airoldi A, de Florio A, Tinella L, Bosco A, Vicari S.   +8 more
europepmc   +1 more source

Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). [PDF]

Genes (Basel)
McGatlin K, Shafer RL, Unruh KE, Stevens CJ, Peterson SG, Dubinsky RM, Lee AP, Tassone F, Hagerman RJ, Bailey H, Mosconi MW.   +10 more
europepmc   +1 more source

Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation. [PDF]

J Speech Lang Hear Res
Klusek J, Will E, Christensen T, Caravella K, Hogan A, Sun J, Smith J, Fairchild AJ, Roberts JE.   +8 more
europepmc   +1 more source

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Cells, 2023
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Flora Tassone, Dragana Protic, Alison D Archibald   +2 more
exaly   +3 more sources

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The FMR1 premutation and reproduction

Fertility and Sterility, 2007
To update clinicians on the reproductive implications of premutations in FMR1 (fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and autism, is due to a full mutation (>200 CGG repeats). Initially, individuals who carried the premutation (defined as more than 55 but less than 200 CGG repeats) were not considered at risk
Randi J Hagerman, Stephanie L Sherman, Allyn Mcconkie-Rosell   +2 more
exaly   +3 more sources

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males

Genes, Brain and Behavior, 2015
Recent evidence suggests that early changes in postural control may be discernible among females with premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene at risk of developing fragile X-associated tremor ataxia ...
Rachael C Cvejic, Darren R Hocking, Kim Cornish   +2 more
exaly   +3 more sources

Parkinsonism, FXTAS, and FMR1 premutations

Movement Disorders, 2004
AbstractThe presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X–associated tremor/ataxia syndrome (FXTAS) is parkinsonism.
Mathias, Toft, Jan, Aasly, Gina, Bisceglio, Charles H, Adler, Ryan J, Uitti, Anna, Krygowska-Wajs, Timothy, Lynch, Zbigniew K, Wszolek, Matthew J, Farrer   +8 more
openaire   +2 more sources