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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09398-7
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- Article
Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
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- Movement Disorders, 2013, v. 28, n. 10, p. 1462, doi. 10.1002/mds.25410
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- Publication type:
- Article
FMR1 gray-zone alleles: Association with Parkinson's disease in women?
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- Movement Disorders, 2011, v. 26, n. 10, p. 1900, doi. 10.1002/mds.23755
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- Article
Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations.
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- Movement Disorders, 2011, v. 26, n. 9, p. 1781, doi. 10.1002/mds.23655
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- Publication type:
- Article
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
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- 2007
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- Publication type:
- journal article
Progression of tremor and ataxia in male carriers of the FMR1 premutation.
- Published in:
- 2007
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- Publication type:
- journal article
Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.
- Published in:
- Movement Disorders, 2006, v. 21, n. 10, p. 1741, doi. 10.1002/mds.21001
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- Publication type:
- Article
How to undertake a clinically relevant systematic review in a rapidly evolving field. Magnetic resonance angiography.
- Published in:
- 2002
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- Publication type:
- journal article
Identifying studies for systematic reviews. An example from medical imaging.
- Published in:
- 2000
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- Publication type:
- journal article
Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 17, p. 2137, doi. 10.3390/cells12172137
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- Publication type:
- Article
Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 5, p. 575, doi. 10.3390/brainsci12050575
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- Publication type:
- Article
Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 314, doi. 10.3390/brainsci12030314
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- Publication type:
- Article
Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 10, p. 1278, doi. 10.3390/brainsci11101278
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- Publication type:
- Article
Immuno and Affinity Cytochemical Analysis of Cell Wall Composition in the Moss Physcomitrella patens.
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- Frontiers in Plant Science, 2016, p. 1, doi. 10.3389/fpls.2016.00248
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- Publication type:
- Article
Teledermatology and teledermatopathology as educational tools for international dermatology: a virtual grand rounds pilot curriculum.
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- International Journal of Dermatology, 2018, v. 57, n. 11, p. 1358, doi. 10.1111/ijd.14014
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- Publication type:
- Article
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-020-00411-9
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- Publication type:
- Article
Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
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- Molecular Autism, 2019, v. 10, n. 1, p. 1, doi. 10.1186/s13229-019-0291-3
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- Article
Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
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- Nutrients, 2020, v. 12, n. 10, p. 3136, doi. 10.3390/nu12103136
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- Publication type:
- Article
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population.
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- JAMA: Journal of the American Medical Association, 2004, v. 291, n. 4, p. 460, doi. 10.1001/jama.291.4.460
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- Publication type:
- Article
Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome.
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- PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0209984
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- Publication type:
- Article
Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.
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- Journal of Child Neurology, 2022, v. 37, n. 10/11, p. 797, doi. 10.1177/08830738221089740
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- Publication type:
- Article
Autoreactive T and B Cells Induce the Development of Bronchus-Associated Lymphoid Tissue in the Lung.
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- American Journal of Respiratory Cell & Molecular Biology, 2013, v. 48, n. 4, p. 406, doi. 10.1165/rcmb.2012-0065OC
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- Publication type:
- Article
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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- Neurogenetics, 2013, v. 14, n. 2, p. 99, doi. 10.1007/s10048-013-0356-y
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- Publication type:
- Article
Survival Among Veterans Receiving Steroids for Immune-Related Adverse Events After Immune Checkpoint Inhibitor Therapy.
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- JAMA Network Open, 2023, v. 6, n. 10, p. e2340695, doi. 10.1001/jamanetworkopen.2023.40695
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- Publication type:
- Article
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34978-4
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- Publication type:
- Article
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
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- Human Molecular Genetics, 2011, v. 20, n. 15, p. 3079, doi. 10.1093/hmg/ddr211
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- Publication type:
- Article
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
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- Human Molecular Genetics, 2010, v. 19, n. 2, p. 299, doi. 10.1093/hmg/ddp497
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- Publication type:
- Article
The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C.
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- Science Translational Medicine, 2021, v. 13, n. 622, p. 1, doi. 10.1126/scitranslmed.abg2919
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- Publication type:
- Article
Development of a bile acid–based newborn screen for Niemann-Pick disease type C.
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- Science Translational Medicine, 2016, v. 8, n. 337, p. 1, doi. 10.1126/scitranslmed.aaf2326
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- Article
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 2, p. 725, doi. 10.1007/s10803-022-05821-7
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- Publication type:
- Article
Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 1, p. 301, doi. 10.1007/s10803-022-05779-6
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- Publication type:
- Article
Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.
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- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 9, p. 3276, doi. 10.1007/s10803-019-04148-0
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- Publication type:
- Article
Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.
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- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 11, p. 4595, doi. 10.1007/s10803-019-04173-z
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- Publication type:
- Article
Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment.
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- Journal of Autism & Developmental Disorders, 2012, v. 42, n. 7, p. 1377, doi. 10.1007/s10803-011-1370-2
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- Publication type:
- Article
Reliability of Eye Tracking and Pupillometry Measures in Individuals with Fragile X Syndrome.
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- Journal of Autism & Developmental Disorders, 2011, v. 41, n. 11, p. 1515, doi. 10.1007/s10803-011-1176-2
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- Publication type:
- Article
Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome.
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- Journal of Autism & Developmental Disorders, 2008, v. 38, n. 9, p. 1751, doi. 10.1007/s10803-008-0564-8
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- Publication type:
- Article
Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 8, p. 1383, doi. 10.1002/aur.2299
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- Publication type:
- Article
Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells.
- Published in:
- Journal of Neuroscience Research, 1998, v. 51, n. 1, p. 41, doi. 10.1002/(SICI)1097-4547(19980101)51:1<41::AID-JNR4>3.0.CO;2-L
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- Publication type:
- Article
Utility of the Hebb-Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00099
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- Publication type:
- Article
Variable human phenotype associated with novel deletions of the PHOX2B gene.
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- Pediatric Pulmonology, 2012, v. 47, n. 2, p. 153, doi. 10.1002/ppul.21527
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- Publication type:
- Article
Congenital central hypoventilation syndrome: Neurocognitive functioning in school age children.
- Published in:
- Pediatric Pulmonology, 2010, v. 45, n. 1, p. 92, doi. 10.1002/ppul.21170
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- Publication type:
- Article
Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine.
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- Pediatric Pulmonology, 2009, v. 44, n. 6, p. 521, doi. 10.1002/ppul.21045
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- Publication type:
- Article
Authors' Reply.
- Published in:
- Pediatric Pulmonology, 2008, v. 43, n. 12, p. 1253, doi. 10.1002/ppul.20815
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- Publication type:
- Article
Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
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- Pediatric Pulmonology, 2008, v. 43, n. 1, p. 77, doi. 10.1002/ppul.20744
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- Publication type:
- Article
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
- Published in:
- Acta Neuropathologica, 2011, v. 122, n. 4, p. 467, doi. 10.1007/s00401-011-0860-9
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- Publication type:
- Article
Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in Fragile X‐associated Tremor/Ataxia Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 7, p. 810, doi. 10.1002/mdc3.13045
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- Publication type:
- Article
Clinimetric Properties of the Fragile X‐associated Tremor Ataxia Syndrome Rating Scale.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 120, doi. 10.1002/mdc3.12708
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- Publication type:
- Article
The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 3, p. 383, doi. 10.1002/mdc3.12449
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- Publication type:
- Article
BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 2, p. 197, doi. 10.1002/mdc3.12250
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- Publication type:
- Article