Results 31 to 40 of about 503,381 (321)

Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. [PDF]

, 2020
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Aydin, Elber Yuksel, Hagerman, Randi J, Martínez-Cerdeño, Veronica, Perlman, Susan, Protic, Dragana, Schneider, Andrea, Tang, Hiu-Tung, Tassone, Flora, Wang, Jun Yi   +8 more
core   +2 more sources

Fragile X Syndrome Workshop

Pediatric Neurology Briefs, 2000
The proceedings of the 9th International Workshop on Fragile X Syndrome and X-Linked Mental Retardation, held in Strasbourg, France, are reported from the University Hospital of Leuven, Belgium.
J Gordon Millichap
doaj   +1 more source

New polymorphic DNA marker close to the fragile site FRAXA [PDF]

, 1990
DNA from a human-hamster hybrid cell line, 908-K1B17, containing a small terminal portion of the long arm of the human X chromosome as well as the pericentric region of 19q was used as starting material for the isolation of an X-chromosome-specific DNA ...
Bakker, E. (Egbert), Bennekom, C.A. (C.) van, Du Sart, D. (Desiree), Halley, D.J.J. (Dicky), Hogenbirk-Hupkes, P.E. (Pauline), Oost, B.A. (B.) van, Oostra, B.A. (Ben), Perdon, L.F. (L.), Schmidt, M.M. (Małgorzata), Smits, A., Wieringa, B. (Bé)   +10 more
core   +1 more source

Psychopathology in Fragile X Syndrome

Pediatric Neurology Briefs, 1989
The physical and behavioral features of the fragile X syndrome are reviewed in a paper from the Child Development Unit and Behavioral Sciences Department, Children’s Hospital, Denver.
J Gordon Millichap
doaj   +1 more source

Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development [PDF]

, 1998
The fragile X syndrome is the most frequent hereditary form of mental retardation. This X-linked disorder is, in most cases, caused by an unstable and expanding trinucleotide CGG repeat located in the 5'-untranslated region ...
Bakker, C.E. (Cathy), Grootegoed, J.A. (Anton), Kant, H.J.G. (Henk) van de, Oostra, B.A. (Ben), Rooij, D.G. de, Slegtenhorst-Eegdeman, K.E., Themmen, A.P.N. (Axel), Verhoef-Post, M. (Miriam)   +7 more
core   +3 more sources

From learning to memory: what flies can tell us about intellectual disability treatment.

Frontiers in Psychiatry, 2015
Intellectual disability (ID), previously known as mental retardation, affects 3 % of the population and remains without pharmacological treatment. ID is characterized by impaired general mental abilities with associated defects in adaptive function in ...
Alaura eAndroschuk, Basma eAl-Jabri, Francois eBolduc   +2 more
doaj   +1 more source

Fragile X Syndrome and Targeted Treatments

Journal of Biomedicine and Translational Research, 2020
Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, Randi Jenssen Hagerman   +3 more
doaj   +1 more source

Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene [PDF]

, 2016
Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years.
Arrieta Saez, María Isabel, Barasoain Hernandez, Maitane, Barrenetxea Ziarrusta, Gorka, Criado, Begoña, Huerta, Iratxe, Télez, Mercedes   +5 more
core   +3 more sources

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

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

Orphanet Journal of Rare Diseases
Background and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression.
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari   +8 more
doaj   +1 more source