Flora Tassone

Flora Tassone

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Flora Tassone

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Interaction between ventricular expansion and structural changes in the corpus callosum and putamen in males with FMR1 normal and premutation alleles.

Neurobiol Aging 2020 02 24;86:27-38. Epub 2019 Sep 24.

Center for Mind and Brain, University of California-Davis, Davis, CA, USA; MIND Institute, University of California-Davis Medical Center, Sacramento, CA, USA; Department of Psychology, University of California-Davis, Davis, CA, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995416PMC
February 2020

Developmental aspects of FXAND in a man with the FMR1 premutation.

Mol Genet Genomic Med 2020 Feb 3;8(2):e1050. Epub 2020 Jan 3.

MIND Institute, University of California Davis School of Medicine, Sacramento, CA, USA.

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http://dx.doi.org/10.1002/mgg3.1050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005639PMC
February 2020

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
February 2020

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

Clin Interv Aging 2020 26;15:285-292. Epub 2020 Feb 26.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA.

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http://dx.doi.org/10.2147/CIA.S240314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051898PMC
February 2020

Metformin treatment in young children with fragile X syndrome.

Mol Genet Genomic Med 2019 11 14;7(11):e956. Epub 2019 Sep 14.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Medical Center, Sacramento, California.

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http://dx.doi.org/10.1002/mgg3.956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825840PMC
November 2019

The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity.

Mol Genet Genomic Med 2019 10 27;7(10):e00946. Epub 2019 Aug 27.

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, USA.

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http://dx.doi.org/10.1002/mgg3.946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785435PMC
October 2019

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Methods Mol Biol 2019 ;1942:173-189

Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Davis, CA, USA.

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http://link.springer.com/10.1007/978-1-4939-9080-1_15
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http://dx.doi.org/10.1007/978-1-4939-9080-1_15DOI Listing
August 2019

Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the Premutation.

Front Neurol 2019 13;10:832. Epub 2019 Aug 13.

Department of Medicine (Neuroscience), Central Clinical School, Monash University, Melbourne, VIC, Australia.

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http://dx.doi.org/10.3389/fneur.2019.00832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700239PMC
August 2019

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases.

Mol Genet Genomic Med 2019 07 18;7(7):e00745. Epub 2019 May 18.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, California.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.745
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http://dx.doi.org/10.1002/mgg3.745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625129PMC
July 2019

FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS].

Biochim Biophys Acta Mol Basis Dis 2019 06 13;1865(6):1379-1388. Epub 2019 Feb 13.

Department of Biochemistry, Faculty of Science, The M.S. University of Baroda, Vadodara 390002, Gujarat, India. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.02.010DOI Listing
June 2019

Fragile X- associated Neuropsychiatric Disorders: A Case Report.

Future Neurol 2019 May 24;14(2). Epub 2019 May 24.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA, USA.

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http://dx.doi.org/10.2217/fnl-2018-0040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034938PMC
May 2019

Molecular Biomarkers in Fragile X Syndrome.

Brain Sci 2019 Apr 27;9(5). Epub 2019 Apr 27.

Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, 95817 CA, USA.

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http://dx.doi.org/10.3390/brainsci9050096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562871PMC
April 2019

Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.

Brain Sci 2019 Mar 1;9(3). Epub 2019 Mar 1.

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/brainsci9030052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468611PMC
March 2019

Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.

Int J Dev Neurosci 2019 Feb 29;72:1-5. Epub 2018 Oct 29.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijdevneu.2018.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354926PMC
February 2019

Fentanyl overdose in a female with the premutation and FXTAS.

J Mol Genet (Isleworth) 2018 Nov 1;1(1). Epub 2018 Apr 1.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Medical Center, Sacramento, CA, USA.

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http://dx.doi.org/10.31038/JMG.1000101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482838PMC
November 2018

Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries.

Cell 2018 09 30;175(1):224-238.e15. Epub 2018 Aug 30.

Department of Bioengineering, University of Pennsylvania, Philadelphia, PA 19104, USA; Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175607PMC
September 2018

Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers.

Front Genet 2018 22;9:302. Epub 2018 Aug 22.

Department of Biochemistry and Molecular Medicine, UC Davis Medical Center, University of California, Davis, Davis, CA, United States.

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http://dx.doi.org/10.3389/fgene.2018.00302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113865PMC
August 2018

Impact of Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins.

Front Genet 2018 27;9:338. Epub 2018 Aug 27.

Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, Davis, CA, United States.

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http://dx.doi.org/10.3389/fgene.2018.00338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119880PMC
August 2018

Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.

Mov Disord 2018 07;33(7):1178-1181

Department of Medicine (Neuroscience), Monash University (Alfred Hospital Campus), Melbourne, VIC, Australia.

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http://dx.doi.org/10.1002/mds.27420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116531PMC
July 2018

Middle Cerebellar Peduncle Width-A Novel MRI Biomarker for FXTAS?

Front Neurosci 2018 25;12:379. Epub 2018 Jun 25.

MIND Institute, University of California Davis Medical Center, Sacramento, CA, United States.

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http://dx.doi.org/10.3389/fnins.2018.00379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026659PMC
June 2018

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

Eur J Med Genet 2018 Apr 28;61(4):209-212. Epub 2017 Nov 28.

MIND Institute, University of California Davis, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173035
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http://dx.doi.org/10.1016/j.ejmg.2017.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991138PMC
April 2018

Age- and CGG repeat-related slowing of manual movement in fragile X carriers: A prodrome of fragile X-associated tremor ataxia syndrome?

Mov Disord 2018 04 1;33(4):628-636. Epub 2018 Feb 1.

MIND Institute, University of California Davis Medical Center, Sacramento, California, USA.

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http://dx.doi.org/10.1002/mds.27314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889332PMC
April 2018

Rare FMR1 gene mutations causing fragile X syndrome: A review.

Am J Med Genet A 2018 01 27;176(1):11-18. Epub 2017 Nov 27.

Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.

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http://doi.wiley.com/10.1002/ajmg.a.38504
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http://dx.doi.org/10.1002/ajmg.a.38504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697153PMC
January 2018

Altered expression of the FMR1 splicing variants landscape in premutation carriers.

Biochim Biophys Acta Gene Regul Mech 2017 Nov 7;1860(11):1117-1126. Epub 2017 Sep 7.

Biochemistry and Molecular Medicine, UC Davis, Sacramento, CA 95817, USA; MIND Institute, UC Davis, Sacramento, CA 95817, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933929PMC
November 2017

Size and methylation mosaicism in males with Fragile X syndrome.

Expert Rev Mol Diagn 2017 11;17(11):1023-1032

a Department of Biochemistry and Molecular Medicine , University of California, School of Medicine , Davis , CA , USA.

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http://dx.doi.org/10.1080/14737159.2017.1377612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924764PMC
November 2017

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the Gene Contract to a Normal Size?

Front Genet 2017 3;8:158. Epub 2017 Nov 3.

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, United States.

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http://dx.doi.org/10.3389/fgene.2017.00158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675867PMC
November 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.

J Appl Res Intellect Disabil 2017 Sep 26;30(5):970-974. Epub 2016 Jul 26.

Medical Investigation of Neurodevelopmental Disorders MIND Institute, Sacramento, CA, USA.

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http://dx.doi.org/10.1111/jar.12272DOI Listing
September 2017

Fragile X syndrome.

Nat Rev Dis Primers 2017 Sep 29;3:17065. Epub 2017 Sep 29.

MIND Institute, UC Davis Health, University of California, Davis, 2826 50th Street, Sacramento, California 95817, USA.

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http://dx.doi.org/10.1038/nrdp.2017.65DOI Listing
September 2017

Children With Fragile X Syndrome Display Threat-Specific Biases Toward Emotion.

Biol Psychiatry Cogn Neurosci Neuroimaging 2017 09 21;2(6):487-492. Epub 2017 Jun 21.

Center for Mind and Brain, University of California, Davis, California; Department of Psychology, University of California, Davis, California; Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, California. Electronic address:

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http://dx.doi.org/10.1016/j.bpsc.2017.06.003DOI Listing
September 2017

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome.

J Neurodev Disord 2017 Aug 2;9(1):26. Epub 2017 Aug 2.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis Medical Center, 2825 50th Street, Sacramento, CA, 95817, USA.

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http://dx.doi.org/10.1186/s11689-017-9207-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540519PMC
August 2017

Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome.

Neurodegener Dis 2017 8;17(1):22-30. Epub 2016 Sep 8.

Department of Psychology and Counselling, School of Psychology and Public Health, La Trobe University, Melbourne, Vic., Australia.

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http://dx.doi.org/10.1159/000446803DOI Listing
July 2017

Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation.

Neurobiol Aging 2017 07 18;55:11-19. Epub 2017 Mar 18.

Center for Mind and Brain, University of California-Davis, Davis, CA, USA; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California-Davis Medical Center, Sacramento, CA, USA; Department of Psychology, University of California-Davis, Davis, CA, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498112PMC
July 2017

Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome.

Brain Dev 2017 Jun 24;39(6):483-492. Epub 2017 Feb 24.

Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA; MIND Institute, University of California Davis Medical Center, Davis, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420478PMC
June 2017

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.

Pediatrics 2017 Jun;139(Suppl 3):S216-S225

Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1542/peds.2016-1159HDOI Listing
June 2017

Reduced vagal tone in women with the premutation is associated with mRNA but not depression or anxiety.

J Neurodev Disord 2017 2;9:16. Epub 2017 May 2.

Department of Psychology, University of South Carolina, 1512 Pendleton Street, Columbia, SC 29208 USA.

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http://dx.doi.org/10.1186/s11689-017-9197-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414146PMC
May 2017

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Neuron 2017 Jan 5;93(2):331-347. Epub 2017 Jan 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, University of Strasbourg, 67400 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5263258PMC
January 2017

Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.

Am J Med Genet B Neuropsychiatr Genet 2016 12 12;171(8):1139-1147. Epub 2016 Sep 12.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Medical Center, Sacramento, California.

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http://dx.doi.org/10.1002/ajmg.b.32496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6907071PMC
December 2016

Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity.

Dis Model Mech 2016 11 16;9(11):1295-1305. Epub 2016 Sep 16.

Discipline of Microbiology, Department of Physiology Anatomy and Microbiology, School of Life Sciences, College of Science Health and Engineering, La Trobe University, Melbourne, Victoria 3086, Australia

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http://dx.doi.org/10.1242/dmm.025684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117226PMC
November 2016

Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation.

Biochem J 2016 11 23;473(21):3871-3888. Epub 2016 Aug 23.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, CA 95817, USA Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1042/BCJ20160585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014977PMC
November 2016

Developmental profiles of infants with an premutation.

J Neurodev Disord 2016 3;8:40. Epub 2016 Nov 3.

RTI International, 3040 E. Cornwallis Road, P.O. Box 12194, Research Triangle Park, NC 27709 USA.

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http://dx.doi.org/10.1186/s11689-016-9171-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095966PMC
November 2016

Aging in Fragile X Premutation Carriers.

Cerebellum 2016 10;15(5):587-94

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute and Department of Pediatrics, UC Davis School of Medicine, Sacramento, CA, USA.

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http://dx.doi.org/10.1007/s12311-016-0805-xDOI Listing
October 2016

Warburg effect linked to cognitive-executive deficits in FMR1 premutation.

FASEB J 2016 10 22;30(10):3334-3351. Epub 2016 Jun 22.

Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, Davis, California, USA; Department of Pediatrics, University of California Davis Medical Center, Sacramento California, USA; and

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http://dx.doi.org/10.1096/fj.201600315RDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024697PMC
October 2016

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.

Cerebellum 2016 10;15(5):623-31

Department of Neurological Sciences, Rush University, 1725 West Harrison Street, Suite 755, Chicago, IL, 60612, USA.

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http://dx.doi.org/10.1007/s12311-016-0809-6DOI Listing
October 2016

Advanced technologies for the molecular diagnosis of fragile X syndrome.

Authors:
Flora Tassone

Expert Rev Mol Diagn 2015 21;15(11):1465-73. Epub 2015 Oct 21.

a Department of Biochemistry and Molecular Medicine , University of California, Davis, School of Medicine , Davis , CA 95616 , USA.

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http://dx.doi.org/10.1586/14737159.2015.1101348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955806PMC
August 2016

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers.

Front Mol Neurosci 2016 12;9:71. Epub 2016 Aug 12.

Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Davis, CAUSA; Department of Pediatrics, University of California Davis Medical Center, Sacramento, CAUSA.

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http://dx.doi.org/10.3389/fnmol.2016.00071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981605PMC
August 2016

Alcohol use dependence in fragile X syndrome.

Intractable Rare Dis Res 2016 Aug;5(3):207-13

School of Medicine, Universidad del Valle, Cali, Colombia; Research Group in Congenital & Perinatal Malformations, Dysmorphology and Clinical Genetics (MACOS), Universidad del Valle, Cali, Colombia; Departments of Morphology and Obstetrics & Gynecology, Universidad del Valle, Hospital Universitario Del Valle, Cali, Colombia.

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http://dx.doi.org/10.5582/irdr.2016.01046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995423PMC
August 2016

Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis.

J Genet Disord Genet Rep 2016 15;5(3). Epub 2016 Jul 15.

MIND Institute, University of California, Davis, USA; Department of Biochemistry and Molecular Medicine, University of California, Davis, USA.

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http://dx.doi.org/10.4172/2327-5790.1000139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5319728PMC
July 2016

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.

Proc Natl Acad Sci U S A 2016 06 27;113(26):E3619-28. Epub 2016 May 27.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France; Centre National de la Recherche Scientifique, UMR 7104, 67404 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67404 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France;

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http://dx.doi.org/10.1073/pnas.1522631113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932937PMC
June 2016

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.

Front Neurosci 2016 19;10:159. Epub 2016 Apr 19.

Department of Molecular Biosciences, School of Veterinary MedicineDavis, CA, USA; Medical Investigations of Neurodevelopmental Disorders Institute, University of California, DavisDavis, CA, USA.

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http://dx.doi.org/10.3389/fnins.2016.00159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835505PMC
May 2016

Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study.

Pediatrics 2016 04 31;137(4). Epub 2016 Mar 31.

Department of Molecular Biosciences, School of Veterinary Medicine, Medical Investigations of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California

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http://pediatrics.aappublications.org/content/pediatrics/ear
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http://dx.doi.org/10.1542/peds.2015-1888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811307PMC
April 2016

Phenobarbital use and neurological problems in FMR1 premutation carriers.

Neurotoxicology 2016 Mar 21;53:141-147. Epub 2016 Jan 21.

MIND Institute, University of California, Davis School of Medicine, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Davis, CA, USA.

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http://dx.doi.org/10.1016/j.neuro.2016.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4808401PMC
March 2016

Identification of a male with fragile X syndrome through newborn screening.

Intractable Rare Dis Res 2015 Nov;4(4):198-202

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, USA ; MIND Institute, University of California, Davis, Medical Center, Sacramento, USA.

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http://dx.doi.org/10.5582/irdr.2015.01031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660861PMC
November 2015

Fragile X syndrome.

Colomb Med (Cali) 2014 Oct-Dec;45(4):190-8. Epub 2014 Dec 30.

Professor Morphology, Gynecology and Obstetrics Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350386PMC
October 2015

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

Am J Med Genet A 2015 Sep 29;167A(9):2154-61. Epub 2015 Apr 29.

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Sacramento, California.

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http://dx.doi.org/10.1002/ajmg.a.37125DOI Listing
September 2015

Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.

J Biol Chem 2015 Sep 28;290(38):23240-53. Epub 2015 Jul 28.

From the Department of Molecular Biosciences, School of Veterinary Medicine, UC Davis, Davis, California 95616, the Medical Investigations of Neurodevelopmental Disorders (MIND) Institute,

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http://dx.doi.org/10.1074/jbc.M115.672360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4645608PMC
September 2015

Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.

Muscle Nerve 2015 Aug;52(2):234-9

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Medical Center, 2825 50th Street, Sacramento, California, 95817, USA.

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http://doi.wiley.com/10.1002/mus.24515
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http://dx.doi.org/10.1002/mus.24515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427531PMC
August 2015

Selected vitamin D metabolic gene variants and risk for autism spectrum disorder in the CHARGE Study.

Early Hum Dev 2015 Aug 11;91(8):483-9. Epub 2015 Jun 11.

Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Davis, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.earlhumdev.2015.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871694PMC
August 2015

Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.

Pediatrics 2015 Aug 13;136(2):e433-40. Epub 2015 Jul 13.

Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2015-0414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516945PMC
August 2015

Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.

Intractable Rare Dis Res 2015 Aug;4(3):123-30

MIND Institute, University of California Davis, Sacramento, USA; ; Department of Psychiatry and Behavioral Sciences, University of California Davis, Sacramento, USA.

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http://dx.doi.org/10.5582/irdr.2015.01029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561241PMC
August 2015

Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome.

Neuron 2015 Jul;87(2):382-98

Center for Human Genetics and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven, 3000 Leuven, Belgium; VIB Center for the Biology of Disease, 3000 Leuven, Belgium; Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2015.06.032DOI Listing
July 2015

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.

PLoS One 2014 9;9(4):e94475. Epub 2014 Apr 9.

Department of Medical Microbiology and Immunology, University of California Davis, Davis, California, United States of America; The M.I.N.D. Institute, University of California Davis, Davis, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0094475PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981824PMC
June 2015

Methadone use in a male with the FMRI premutation and FXTAS.

Am J Med Genet A 2015 Jun 21;167(6):1354-9. Epub 2015 Apr 21.

Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California.

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http://doi.wiley.com/10.1002/ajmg.a.37030
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http://dx.doi.org/10.1002/ajmg.a.37030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845901PMC
June 2015

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

PLoS One 2014 1;9(8):e103884. Epub 2014 Aug 1.

Department of Biochemistry and Molecular Medicine, University of California Davis, Sacramento, California, United States of America; MIND Institute, UC Davis Medical Center, Sacramento, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0103884PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118991PMC
April 2015

Temporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls.

Front Hum Neurosci 2015 5;9:37. Epub 2015 Feb 5.

MIND Institute, University of California Davis School of Medicine Sacramento, CA, USA ; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine Sacramento, CA, USA.

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http://dx.doi.org/10.3389/fnhum.2015.00037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318336PMC
February 2015

Differential increases of specific FMR1 mRNA isoforms in premutation carriers.

J Med Genet 2015 Jan 30;52(1):42-52. Epub 2014 Oct 30.

Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California, USA MIND Institute, University of California Davis Medical Center, Sacramento, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394606PMC
January 2015

Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR.

Clin Chem 2015 Jan 11;61(1):182-90. Epub 2014 Nov 11.

Department of Biochemistry and Molecular Medicine, UC Davis Medical Center, Sacramento, CA; MIND Institute, UC Davis Medical Center, Sacramento, CA.

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http://dx.doi.org/10.1373/clinchem.2014.230086DOI Listing
January 2015

Immune mediated disorders in women with a fragile X expansion and FXTAS.

Am J Med Genet A 2015 Jan 14;167A(1):190-7. Epub 2014 Nov 14.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis Medical Center, Sacramento, California.

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http://dx.doi.org/10.1002/ajmg.a.36748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4275322PMC
January 2015

The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery.

Stem Cells Transl Med 2014 Nov 1;3(11):1275-86. Epub 2014 Oct 1.

National Human Neural Stem Cell Resource, Centers for Neuroscience and Translational Research, Children's Hospital of Orange County Research Institute, Orange, California, USA; Department of Developmental and Cell Biology, University of California, Irvine, Irvine, California, USA; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, Department of Pediatrics, and Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, California, USA

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http://dx.doi.org/10.5966/sctm.2014-0073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214842PMC
November 2014

Distribution of AGG interruption patterns within nine world populations.

Intractable Rare Dis Res 2014 Nov;3(4):153-61

Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA, USA; ; M.I.N.D. Institute, University of California Davis Medical Center, Davis, CA, USA.

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http://dx.doi.org/10.5582/irdr.2014.01028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298645PMC
November 2014

Parent-delivered touchscreen intervention for children with fragile X syndrome.

Intractable Rare Dis Res 2014 Nov;3(4):166-77

University of California Davis MIND Institute, Sacramento, USA; ; University of California Davis, Davis, USA;

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http://dx.doi.org/10.5582/irdr.2014.01026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298647PMC
November 2014

Clinical and molecular implications of mosaicism in FMR1 full mutations.

Front Genet 2014 17;5:318. Epub 2014 Sep 17.

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California at Davis Davis, CA, USA ; Department of Pediatrics, School of Medicine, University of California at Davis Davis, CA, USA.

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http://dx.doi.org/10.3389/fgene.2014.00318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166380PMC
October 2014

Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR.

BMC Med Genet 2014 Oct 14;15:106. Epub 2014 Oct 14.

Department of Biochemistry and Molecular Medicine, UC Davis, 2700 Stockton Blvd, Suite 2102, Sacramento 95817, CA, USA.

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http://dx.doi.org/10.1186/s12881-014-0106-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258952PMC
October 2014

Association between macroorchidism and intelligence in FMR1 premutation carriers.

Am J Med Genet A 2014 Sep 5;164A(9):2206-11. Epub 2014 Jun 5.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, UC Davis Medical Center, Sacramento, California; Departments of Pediatrics, UC Davis Medical Center, Sacramento, California.

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http://dx.doi.org/10.1002/ajmg.a.36624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332881PMC
September 2014

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

J Neurodev Disord 2014 30;6(1):24. Epub 2014 Jul 30.

Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, 2700 Stockton Blvd., Suite 2102, Sacramento, CA 95817, USA ; MIND Institute, University of California, Davis, School of Medicine, Davis, CA, USA.

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http://dx.doi.org/10.1186/1866-1955-6-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126815PMC
August 2014

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

J Neurodev Disord 2014 30;6(1):23. Epub 2014 Jul 30.

Department of Translational Medicine, IGBMC, INSERM U964 Illkirch, France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR7104, INSERM U964, University of Strasbourg, 1 rue Laurent Fries, Illkirch F-67404, France.

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http://dx.doi.org/10.1186/1866-1955-6-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144988PMC
August 2014

Fragile x premutation.

J Neurodev Disord 2014 30;6(1):22. Epub 2014 Jul 30.

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California, Davis, Medical Center, Sacramento, CA, USA ; Department of Pediatrics, University of California, Davis, Medical Center, Sacramento, CA, USA.

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http://jneurodevdisorders.biomedcentral.com/articles/10.1186
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http://dx.doi.org/10.1186/1866-1955-6-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147873PMC
August 2014

Genomic studies in fragile X premutation carriers.

J Neurodev Disord 2014 30;6(1):27. Epub 2014 Jul 30.

MIND Institute, UC Davis Medical Center, Sacramento, 2825 50th Street, California, CA 95817, USA ; Department of Biochemistry and Molecular Medicine, UC Davis Medical Center, Sacramento, CA, USA.

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http://dx.doi.org/10.1186/1866-1955-6-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147387PMC
August 2014

Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.

Neuropsychology 2014 Jul 28;28(4):571-584. Epub 2014 Apr 28.

Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center.

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http://dx.doi.org/10.1037/neu0000066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172343PMC
July 2014

Methylation analysis in newborn screening for fragile X syndrome--reply.

Authors:
Flora Tassone

JAMA Neurol 2014 Jun;71(6):800-1

Department of Biochemistry and Molecular Medicine, MIND Institute, University of California, Davis, School of Medicine.

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http://dx.doi.org/10.1001/jamaneurol.2014.454DOI Listing
June 2014

Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome.

J Neuroinflammation 2014 Jun 19;11:110. Epub 2014 Jun 19.

Department of Medical Microbiology and Immunology, and the MIND Institute, UC Davis, 2805, 50th Street, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1186/1742-2094-11-110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107617PMC
June 2014

The development of cognitive control in children with chromosome 22q11.2 deletion syndrome.

Front Psychol 2014 10;5:566. Epub 2014 Jun 10.

Department of Psychiatry and Behavioral Sciences, MIND Institute, University of California at Davis Sacramento, CA, USA.

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http://dx.doi.org/10.3389/fpsyg.2014.00566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4050531PMC
June 2014