Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency

(2020) Harrison James Burgin et al.   FEBS LETTERS

Clustering of comorbid conditions among women who carry an FMR1 premutation

(2020) Emily Graves Allen et al.   GENETICS IN MEDICINE

Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample

(2019) Arezoo Movaghar et al.   Science Advances

MRI findings in fragile X-associated tremor/ataxia syndrome

(2019) Thomas Claeys et al.   ACTA NEUROLOGICA BELGICA

Mitochondrial Cholesterol in Alzheimer's Disease and Niemann–Pick Type C Disease

(2019) Sandra Torres et al.   Frontiers in Neurology

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency

(2018) Patricia E. Fitzsimons et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Brain Energy and Oxygen Metabolism: Emerging Role in Normal Function and Disease

(2018) Michelle E. Watts et al.   Frontiers in Molecular Neuroscience

Mitochondrial DNA Copy Numbers in Pyramidal Neurons are Decreased and Mitochondrial Biogenesis Transcriptome Signaling is Disrupted in Alzheimer's Disease Hippocampi

(2018) Ann C. Rice et al.   JOURNAL OF ALZHEIMERS DISEASE

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins

(2018) Eleonora Napoli et al.   Frontiers in Genetics

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

(2018) Randi J. Hagerman et al.   Frontiers in Psychiatry

Oocyte Developmental Competence: Insights from Cross-Species Differential Gene Expression and Human Oocyte-Specific Functional Gene Networks

(2017) Fernando H. Biase   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome

(2016) Eleonora Napoli et al.   CEREBELLUM

Aging in Fragile X Premutation Carriers

(2016) Reymundo Lozano et al.   CEREBELLUM

Genetics of mitochondrial dysfunction and infertility

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

Warburg effect linked to cognitive-executive deficits in FMR1 premutation

(2016) Eleonora Napoli et al.   FASEB JOURNAL

Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency

(2016) Carola Conca Dioguardi et al.   MOLECULAR HUMAN REPRODUCTION

Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine

(2016) Gyu Song et al.   MOLECULAR MEDICINE

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

(2016) Randi J. Hagerman et al.   Nature Reviews Neurology

Influence of Tryptophan and Serotonin on Mood and Cognition with a Possible Role of the Gut-Brain Axis

(2016) Trisha Jenkins et al.   Nutrients

Restoration of normal embryogenesis by mitochondrial supplementation in pig oocytes exhibiting mitochondrial DNA deficiency

(2016) Gael L. M. Cagnone et al.   Scientific Reports

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers

(2016) Cecilia Giulivi et al.   Frontiers in Molecular Neuroscience

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

(2016) Randi Hagerman   Clinical Interventions in Aging

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

(2015) Chika Sakai et al.   HUMAN MUTATION

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

(2015) Eleonora Napoli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional correlates of t-Tau, p-Tau and Aβ1–42 amyloid cerebrospinal fluid levels in Alzheimer’s disease

(2015) Agostino Chiaravalloti et al.   NUCLEAR MEDICINE COMMUNICATIONS

The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency

(2014) M. Voorhuis et al.   HUMAN REPRODUCTION

Associated features in females with an FMR1 premutation

(2014) Anne C Wheeler et al.   Journal of Neurodevelopmental Disorders

Elevated Levels of FMR1 mRNA in Granulosa Cells Are Associated with Low Ovarian Reserve in FMR1 Premutation Carriers

(2014) Shai E. Elizur et al.   PLoS One

Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency

(2014) Anne C. Wheeler et al.   Frontiers in Genetics

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

(2013) Anna Murray et al.   GENETICS IN MEDICINE

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

Gestational Exposure to a Viral Mimetic Poly(I:C) Results in Long-Lasting Changes in Mitochondrial Function by Leucocytes in the Adult Offspring

(2013) Cecilia Giulivi et al.   MEDIATORS OF INFLAMMATION

Cortical energy demands of signaling and nonsignaling components in brain are conserved across mammalian species and activity levels

(2013) Fahmeed Hyder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Immune-mediated disorders among women carriers of fragile X premutation alleles

(2012) Tri Indah Winarni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Defective mitochondrial disulfide relay system, altered mitochondrial morphology and function in Huntington's disease

(2012) Eleonora Napoli et al.   HUMAN MOLECULAR GENETICS

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

(2012) Claudia Bagni et al.   JOURNAL OF CLINICAL INVESTIGATION

Differential effect of APOE genotype on amyloid load and glucose metabolism in AD dementia

(2012) R. Ossenkoppele et al.   NEUROLOGY

Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve

(2012) Lisa M. Pastore et al.   Reproductive Sciences

Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function

(2011) C. B. Karimov et al.   HUMAN REPRODUCTION

Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1

(2011) J. Schuettler et al.   HUMAN REPRODUCTION

A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome

(2010) S. Filipovic-Sadic et al.   CLINICAL CHEMISTRY

Co-occurring diagnoses amongFMR1premutation allele carriers

(2010) JE Hunter et al.   CLINICAL GENETICS

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

(2010) C. E. Bennett et al.   HUMAN REPRODUCTION

Mitochondrial Dysfunction in Autism

(2010) Cecilia Giulivi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mood and cortisol responses following tryptophan-rich hydrolyzed protein and acute stress in healthy subjects with high and low cognitive reactivity to depression

(2009) Christine Firk et al.   CLINICAL NUTRITION

Mitochondrial functions on oocytes and preimplantation embryos

(2009) Li-ya Wang et al.   Journal of Zhejiang University-SCIENCE B

Co-occurring conditions associated withFMR1gene variations: Findings from a national parent survey

(2008) Donald B. Bailey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency

(2008) Isabelle Streuli et al.   FERTILITY AND STERILITY

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

(2007) Flora Tassone et al.   JOURNAL OF MOLECULAR DIAGNOSTICS