Home
Catalogue search
Refine your search:
Keyword:
FMR1 (2)
Fragile X Syndrome (2)
6.1 Pharmaceuticals (1)
Autism spectrum disorder (1)
Basic Behavioral and Social Science (1)
Behavioral and Social Science (1)
Brain Disorders (1)
Cellular and Developmental Biology (1)
Child (1)
Clinical Sciences (1)
more
Creator / Publisher:
Abdelhak, Sonia (1)
Afzal, Sumra (1)
Archbold, Hilary C (1)
Barmada, Sami J (1)
Biag, Hazel Maridith B (1)
Bourourou, Rym (1)
CHU Fattouma Bourguiba Monastir (HFB) (1)
Campos Guzmán, Miriam (1)
Craig A. Erickson (1)
Dallali, Hamza (1)
more
Year:
2019 (5)
Medium
Type:
Article (5)
BLLDB-Access:
free (5)
subject to license (0)
Search in the Catalogues and Directories
All fields
Title
Creator / Publisher
Keyword
Year
AND
OR
AND NOT
All fields
Title
Creator / Publisher
Keyword
Year
AND
OR
AND NOT
All fields
Title
Creator / Publisher
Keyword
Year
AND
OR
AND NOT
All fields
Title
Creator / Publisher
Keyword
Year
AND
OR
AND NOT
All fields
Title
Creator / Publisher
Keyword
Year
Sort by
creator [A → Z]
'
creator [Z → A]
'
publishing year ↑ (asc)
'
publishing year ↓ (desc)
'
title [A → Z]
'
title [Z → A]
'
Simple Search
Hits 1 – 5 of 5
1
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
Lahbib, Saida
;
Trabelsi, Mediha
;
Dallali, Hamza
...
In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
BASE
Show details
2
Metformin treatment in young children with fragile X syndrome.
Biag, Hazel Maridith B
;
Potter, Laura A
;
Wilkins, Victoria
;
Afzal, Sumra
;
Rosvall, Alexis
;
Salcedo-Arellano, Maria Jimena
;
Rajaratnam, Akash
;
Manzano-Nunez, Ramiro
;
Schneider, Andrea
;
Tassone, Flora
;
Rivera, Susan M
;
Hagerman, Randi J
In: Molecular genetics & genomic medicine, vol 7, iss 11 (2019)
Abstract:
BackgroundMetformin is a drug commonly used in individuals with type 2 diabetes, obesity, and impaired glucose tolerance. It has a strong safety profile in both children and adults. Studies utilizing the Drosophila model and knock out mouse model of fragile X syndrome (FXS) have found metformin to rescue memory, social novelty deficits, and neuroanatomical abnormalities. These studies provided preliminary evidence that metformin could be used as a targeted treatment for the cognitive and behavioral problems associated with FXS. Previously, a case series of children and adults with FXS treated with metformin demonstrated improvements in irritability, social responsiveness, language, and hyperactivity.MethodsHere, we present nine children with FXS between 2 and 7years of age who were treated clinically with metformin and monitored for behavioral and metabolic changes.ResultsParent reports and developmental testing before and after metformin are presented. There were improvements in language development and behavior (such as lethargy and stereotypy) in most of the patients.ConclusionThese results support the need for a controlled trial of metformin in children with FXS under 7years old whose brains are in a critical developmental window and thus may experience a greater degree of clinical benefit from metformin.
Keyword:
6.1 Pharmaceuticals
;
Basic Behavioral and Social Science
;
Behavioral and Social Science
;
Brain Disorders
;
Child
;
Clinical Sciences
;
Diabetes
;
FMR1
;
Fragile X Syndrome
;
Genetics
;
Humans
;
Hypoglycemic Agents
;
Intellectual and Developmental Disabilities (IDD)
;
Male
;
Medicinal and Biomolecular Chemistry
;
Metabolic and endocrine
;
Metformin
;
Neurodevelopmental Disorders
;
Orphan Drug
;
Pediatric
;
Preschool
;
Prognosis
;
Rare Diseases
;
targeted treatments
;
translational medicine
URL:
https://escholarship.org/uc/item/6vz0b2jm
BASE
Hide details
3
A Pilot Quantitative Evaluation of Early Life Language Development in Fragile X Syndrome
Debra L. Reisinger
;
Rebecca C. Shaffer
;
Ernest V. Pedapati
...
In: Brain Sciences ; Volume 9 ; Issue 2 (2019)
BASE
Show details
4
DDX3X and specific initiation factors modulate FMR1 repeat‐associated non‐AUG‐initiated translation
Linsalata, Alexander E
;
He, Fang
;
Malik, Ahmed M
. - : Wiley Periodicals, Inc., 2019
BASE
Show details
5
Trastornos del habla en el síndrome X frágil. Una revisión bibliográfica ; Speech disorders in fragile X syndrome. A bibliographical review
Campos Guzmán, Miriam
;
Marín Suelves, Diana
;
Fernández Andrés, Mª Inmaculada
. - : Universidad de Granada, 2019
BASE
Show details
Mobile view
All
Catalogues
UB Frankfurt Linguistik
0
IDS Mannheim
0
OLC Linguistik
0
UB Frankfurt Retrokatalog
0
DNB Subject Category Language
0
Institut für Empirische Sprachwissenschaft
0
Leibniz-Centre General Linguistics (ZAS)
0
Bibliographies
BLLDB
0
BDSL
0
IDS Bibliografie zur deutschen Grammatik
0
IDS Bibliografie zur Gesprächsforschung
0
IDS Konnektoren im Deutschen
0
IDS Präpositionen im Deutschen
0
IDS OBELEX meta
0
MPI-SHH Linguistics Collection
0
MPI for Psycholinguistics
0
Linked Open Data catalogues
Annohub
0
Online resources
Link directory
0
Journal directory
0
Database directory
0
Dictionary directory
0
Open access documents
BASE
5
Linguistik-Repository
0
IDS Publikationsserver
0
Online dissertations
0
Language Description Heritage
0
© 2013 - 2024 Lin|gu|is|tik
|
Imprint
|
Privacy Policy
|
Datenschutzeinstellungen ändern