Found: 32
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Problematic Mobile Gaming in Parkinson's Disease: An Impulse Control Disorder for the Smartphone.
- Published in:
- Movement Disorders Clinical Practice, 2017, v. 4, n. 2, p. 277, doi. 10.1002/mdc3.12378
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- Publication type:
- Article
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
- Published in:
- 2022
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- Publication type:
- journal article
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1381, doi. 10.1007/s00439-020-02178-8
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- Publication type:
- Article
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32970
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- Publication type:
- Article
A Discipline is Born.
- Published in:
- 2009
- By:
- Publication type:
- Book Review
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1756, doi. 10.1002/ajmg.a.61273
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- Publication type:
- Article
Global resting‐state functional connectivity of neural oscillations in tinnitus with and without hearing loss.
- Published in:
- Human Brain Mapping, 2020, v. 41, n. 10, p. 2846, doi. 10.1002/hbm.24981
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- Publication type:
- Article
Long-term wireless streaming of neural recordings for circuit discovery and adaptive stimulation in individuals with Parkinson's disease.
- Published in:
- Nature Biotechnology, 2021, v. 39, n. 9, p. 1078, doi. 10.1038/s41587-021-00897-5
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- Publication type:
- Article
Prevalence and characterization of mild cognitive impairment and dementia among the oldest old: The WISE study
- Published in:
- 2010
- By:
- Publication type:
- Abstract
Associations Between Academic Achievement and Psychosocial Variables in Adolescents With Cystic Fibrosis.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Cognitive Processing Speed in Older Adults: Relationship with White Matter Integrity.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050425
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- Publication type:
- Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 461, doi. 10.1007/s00439-019-02102-9
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- Publication type:
- Article
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnmol.2022.979061
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- Publication type:
- Article
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Increased metabolic vulnerability in early-onset Alzheimer's disease is not related to amyloid burden.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Increased metabolic vulnerability in early-onset Alzheimer’s disease is not related to amyloid burden.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 2, p. 512, doi. 10.1093/brain/awp326
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- Publication type:
- Article
Sporadic corticobasal syndrome due to FTLD-TDP.
- Published in:
- 2010
- By:
- Publication type:
- Report
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 4, p. 171, doi. 10.1111/ahg.12459
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- Publication type:
- Article
Abeta amyloid and glucose metabolism in three variants of primary progressive aphasia.
- Published in:
- 2008
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- Publication type:
- journal article
Aβ amyloid and glucose metabolism in three variants of primary progressive aphasia.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 4, p. 388, doi. 10.1002/ana.21451
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- Publication type:
- Article
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 6343, doi. 10.1007/s00415-024-12565-0
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- Publication type:
- Article
Heterogeneous patterns of tissue injury in NARP syndrome.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 3, p. 440, doi. 10.1007/s00415-010-5775-1
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- Publication type:
- Article
Cognitive Control, Goal Maintenance, and Prefrontal Function in Healthy Aging.
- Published in:
- Cerebral Cortex, 2008, v. 18, n. 5, p. 1010, doi. 10.1093/cercor/bhm135
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- Publication type:
- Article
Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1115, doi. 10.1002/pd.6629
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- Publication type:
- Article
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 3, p. 352, doi. 10.1002/pd.6519
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- Publication type:
- Article
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1122985
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- Publication type:
- Article
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1099995
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- Publication type:
- Article
Phase I trial of caudate deep brain stimulation for treatment-resistant tinnitus.
- Published in:
- Journal of Neurosurgery, 2020, v. 133, n. 4, p. 992, doi. 10.3171/2019.4.JNS19347
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- Publication type:
- Article
Identifying preoperative language tracts and predicting postoperative functional recovery using HARDI q-ball fiber tractography in patients with gliomas.
- Published in:
- Journal of Neurosurgery, 2016, v. 125, n. 1, p. 33, doi. 10.3171/2015.6.jns142203
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- Publication type:
- Article
Clinical outcomes using ClearPoint interventional MRI for deep brain stimulation lead placement in Parkinson's disease.
- Published in:
- Journal of Neurosurgery, 2016, v. 124, n. 4, p. 908, doi. 10.3171/2015.4.JNS15173
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- Publication type:
- Article
Rivastigmine is associated with restoration of left frontal brain activity in Parkinson's disease.
- Published in:
- Movement Disorders, 2013, v. 28, n. 10, p. 1384, doi. 10.1002/mds.25575
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- Publication type:
- Article
Prefrontal Physiomarkers of Anxiety and Depression in Parkinson's Disease.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.748165
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- Publication type:
- Article