Literature DB >> 19968948

Fragile X: a family of disorders.

Weerasak Chonchaiya1, Andrea Schneider, Randi J Hagerman.   

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Year:  2009        PMID： 19968948      PMCID： PMC2921504          DOI： 10.1016/j.yapd.2009.08.008

Source DB:  PubMed          Journal:  Adv Pediatr        ISSN： 0065-3101


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  94 in total

1.  Transient and persistent dendritic spines in the neocortex in vivo.

Authors:  Anthony J G D Holtmaat; Joshua T Trachtenberg; Linda Wilbrecht; Gordon M Shepherd; Xiaoqun Zhang; Graham W Knott; Karel Svoboda
Journal:  Neuron       Date:  2005-01-20       Impact factor: 17.173

Review 2.  FMRP RNA targets: identification and validation.

Authors:  J C Darnell; O Mostovetsky; R B Darnell
Journal:  Genes Brain Behav       Date:  2005-08       Impact factor: 3.449

3.  GRAND ROUNDS: an atypical progressive dementia in a male carrier of the fragile X premutation: an example of fragile X-associated tremor/ataxia syndrome.

Authors:  Philip K Mothersead; Kimberly Conrad; Randi J Hagerman; Claudia M Greco; David Hessl; Flora Tassone
Journal:  Appl Neuropsychol       Date:  2005

4.  Epilepsy and EEG findings in males with fragile X syndrome.

Authors:  S A Musumeci; R J Hagerman; R Ferri; P Bosco; B Dalla Bernardina; C A Tassinari; G B De Sarro; M Elia
Journal:  Epilepsia       Date:  1999-08       Impact factor: 5.864

5.  Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

Authors:  M G Butler; M J Dasouki; X-P Zhou; Z Talebizadeh; M Brown; T N Takahashi; J H Miles; C H Wang; R Stratton; R Pilarski; C Eng
Journal:  J Med Genet       Date:  2005-04       Impact factor: 6.318

6.  Academic skills of boys with fragile X syndrome: profiles and predictors.

Authors:  Jane E Roberts; Jennifer M Schaaf; Martie Skinner; Anne Wheeler; Stephen Hooper; Deborah D Hatton; Donald B Bailey
Journal:  Am J Ment Retard       Date:  2005-03

7.  Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse.

Authors:  Mei Qin; Julia Kang; Thomas V Burlin; Chunhui Jiang; Carolyn Beebe Smith
Journal:  J Neurosci       Date:  2005-05-18       Impact factor: 6.167

8.  FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

Authors:  Marie Castets; Céline Schaeffer; Elias Bechara; Annette Schenck; Edward W Khandjian; Sylvie Luche; Hervé Moine; Thierry Rabilloud; Jean-Louis Mandel; Barbara Bardoni
Journal:  Hum Mol Genet       Date:  2005-02-09       Impact factor: 6.150

9.  Mapping nonverbal IQ in young boys with fragile X syndrome.

Authors:  Martie Skinner; Stephen Hooper; Deborah D Hatton; Jane Roberts; Penny Mirrett; Jennifer Schaaf; Kelly Sullivan; Anne Wheeler; Donald B Bailey
Journal:  Am J Med Genet A       Date:  2005-01-01       Impact factor: 2.802

10.  Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome.

Authors:  Sean M J McBride; Catherine H Choi; Yan Wang; David Liebelt; Evan Braunstein; David Ferreiro; Amita Sehgal; Kathleen K Siwicki; Thomas C Dockendorff; Hanh T Nguyen; Thomas V McDonald; Thomas A Jongens
Journal:  Neuron       Date:  2005-03-03       Impact factor: 17.173
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  41 in total

1.  Diagnosis of fragile X syndrome: a qualitative study of African American families.

Authors:  Jeannie Visootsak; Krista Charen; Julia Rohr; Emily Allen; Stephanie Sherman
Journal:  J Genet Couns       Date:  2011-12-02       Impact factor: 2.537

Review 2.  Fragile X syndrome and targeted treatment trials.

Authors:  Randi Hagerman; Julie Lauterborn; Jacky Au; Elizabeth Berry-Kravis
Journal:  Results Probl Cell Differ       Date:  2012

3.  The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.

Authors:  Xiao-Nan Zhao; Karen Usdin
Journal:  Hum Mutat       Date:  2015-04       Impact factor: 4.878

4.  Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.

Authors:  Weerasak Chonchaiya; Jacky Au; Andrea Schneider; David Hessl; Susan W Harris; Meredith Laird; Yi Mu; Flora Tassone; Danh V Nguyen; Randi J Hagerman
Journal:  Hum Genet       Date:  2011-10-15       Impact factor: 4.132

5.  Modulators of Kv3 Potassium Channels Rescue the Auditory Function of Fragile X Mice.

Authors:  Lynda El-Hassar; Lei Song; Winston J T Tan; Charles H Large; Giuseppe Alvaro; Joseph Santos-Sacchi; Leonard K Kaczmarek
Journal:  J Neurosci       Date:  2019-04-01       Impact factor: 6.167

6.  Gender-specific effect of Mthfr genotype and neonatal vigabatrin interaction on synaptic proteins in mouse cortex.

Authors:  Elinor Blumkin; Tamar Levav-Rabkin; Osnat Melamed; Dalia Galron; Hava M Golan
Journal:  Neuropsychopharmacology       Date:  2011-04-13       Impact factor: 7.853

7.  X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion.

Authors:  Rachel Adihe Lokanga; Xiao-Nan Zhao; Ali Entezam; Karen Usdin
Journal:  Hum Mol Genet       Date:  2014-05-08       Impact factor: 6.150

8.  Physiological Correlates of Maternal Responsivity in Mothers of Preschoolers With Fragile X Syndrome.

Authors:  Ashley N Robinson; Jane E Roberts; Nancy C Brady; Samuel D McQuillin; Steven F Warren
Journal:  Am J Intellect Dev Disabil       Date:  2016-03

9.  Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice.

Authors:  Adam J Iliff; Abigail J Renoux; Amy Krans; Karen Usdin; Michael A Sutton; Peter K Todd
Journal:  Hum Mol Genet       Date:  2012-12-18       Impact factor: 6.150

10.  Aging in fragile X syndrome.

Authors:  Agustini Utari; Evan Adams; Elizabeth Berry-Kravis; Alyssa Chavez; Felicia Scaggs; Lily Ngotran; Antoniya Boyd; David Hessl; Louise W Gane; Flora Tassone; Nicole Tartaglia; Maureen A Leehey; Randi J Hagerman
Journal:  J Neurodev Disord       Date:  2010-05-12       Impact factor: 4.025
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