Results 21 to 30 of about 3,802 (188)

FMR1 premutation with Prader–Willi phenotype and fragile X‐associated tremor/ataxia syndrome [PDF]

Clinical Case Reports, 2017
Key Clinical Message This is a report of FMR1 premutation with Prader–Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear
Verónica Martínez‐Cerdeño, Mirna Lechpammer, Stephen Noctor, Jeanelle Ariza, Paul Hagerman, Randi Hagerman   +5 more
doaj   +2 more sources

Towards An Understanding of Neuropsychiatric Manifestations In Fragile X Premutation Carriers [PDF]

Future Neurology, 2014
Fragile X-associated disorders (FXD) are a group of disorders caused by expansion of non-coding CGG repeat elements in the fragile X (FMR1) gene. One of these disorders, fragile X syndrome (FXS), is the most common heritable cause of intellectual disability, and is caused by large CGG repeat expansions (>200) resulting in silencing of the FMR1 gene. An
Besterman, Aaron D, Wilke, Scott A, Mulligan, Tua-Elisabeth, Allison, Stephen C, Hagerman, Randi, Seritan, Andreea L, Bourgeois, James A   +6 more
openaire   +6 more sources

Case Series: Vestibular Migraines in Fragile X Premutation Carriers. [PDF]

J Clin Med
BACKGROUND: Vestibular migraine (VM) is one of the most common causes of recurrent vertigo and presents with a history of spontaneous or positional vertigo with a history of migraine headaches.
Tak Y, Tassone F, Hagerman RJ.
europepmc   +2 more sources

The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness. [PDF]

J Med Genet, 2022
FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems ...
Hessl D, Rosselot H, Miller R, Espinal G, Famula J, Sherman SL, Todd PK, Cabal Herrera AM, Lipworth K, Cohen J, Hall DA, Leehey M, Grigsby J, Weber JD, Alusi S, Wheeler A, Raspa M, Hudson T, Sobrian SK.   +18 more
europepmc   +2 more sources

Broad autism spectrum and obsessive–compulsive symptoms in adults with the fragile X premutation [PDF]

Clinical Neuropsychologist, 2016
Andrea Schneider, Christine Johnston, Flora Tassone   +2 more
exaly   +2 more sources

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

, 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
Melissa Raspa (7534802), Emily Graves Allen (11509864), Reymundo Lozano (4533649), Katharine Shelly (17286910), Dejan B Budimirovic (17286874), Brett Dufour (17286877), Molly Losh (5120810), Federica Alice Maria Montanaro (14654654), Jessica Klusek (11526796), Peter K Todd (17286913), Marsha R Mailick (5822288), Nicola Elvassore (121419), Karen Lipworth (17286892), Ted W Brown (17286871), Deborah A Hall (16054376), Dragana Protic (5777135), Flora Tassone (207299), Robert M Miller (17286898), Veronica Martinez-Cerdeno (17286895), Jessica Ezzell Hunter (11509870), Peng Jin (216301), Abigail Hogan (5120813), Rachel Eiges (216104), R Frank Kooy (17286886), Cecilia Laterza (4821909), Marwa Zafarullah (12527002), Matthew W Mosconi (17286901), Katarzyna Tutak (17286916), Danuta Loesch-Mdzewska (9478565), Jun Yi Wang (2805190), Lidia V Gabis (17286880), Poonnada Jiraanont (12526993), Sarah Nelson Potter (17286904), Samantha J Grudzien (17286883), Apostolos Manolopoulos (6596681), Jonathan Cohen (26835), David Hessl (2805181), Yingratana McLennan (6587582), Susan M Rivera (17286907), Anna Baud (3719770), Alison D Archibald (17286868), Andrea Lee (7519388), Anne Wheeler (14514257), Tri Indah Winarni (3826342), Claudine M Kraan (17286889), Randi J Hagerman (17286919)   +45 more
core   +2 more sources

Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation [PDF]

Neurobiology of Aging, 2017
Jun Yi Wang, David Hessl, Randi J Hagerman   +2 more
exaly   +2 more sources

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

Frontiers in Psychiatry, 2021
FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas, Andrea Elias-Mas, Andrea Elias-Mas, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Maria Isabel Alvarez-Mora, Conxita Caro-Benito, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga   +9 more
doaj   +1 more source

An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion

Frontiers in Neurology, 2023
ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on
Lidia V. Gabis, Lidia V. Gabis, Lidia V. Gabis, Meirav Shaham, Odelia Leon Attia, Tamar Kowal, Sivan David, Yonit Banet-Levi, Shahar Shefer, Daniel Gabis, Dana Mula-Topf, Michal Avrech Bar, Orit Bart, Osnat Segal   +13 more
doaj   +1 more source

Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement. [PDF]

Front Mol Biosci, 2020
Expansions of the CGG repeat in the non-coding segment of the FMR1 X-linked gene are associated with a variety of phenotypic changes. Large expansions (>200 repeats), which cause a severe neurodevelopmental disorder, the fragile x syndrome (FXS), are ...
Loesch DZ, Tassone F, Atkinson A, Stimpson P, Trost N, Pountney DL, Storey E.   +6 more
europepmc   +2 more sources