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Assessing Long‐Term Neurologic Outcomes in SAMD9L‐Related Ataxia‐Pancytopenia Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 728, doi. 10.1002/mdc3.14038
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- Publication type:
- Article
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 70, doi. 10.1002/mdc3.12873
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- Publication type:
- Article
ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 7, p. 512, doi. 10.1002/mdc3.12816
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- Publication type:
- Article
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 8, p. 920, doi. 10.1001/jamaneurol.2015.0979
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- Publication type:
- Article
CURRENT UNDERSTANDING OF THE GENETIC BASIS OF READING AND SPELLING DISABILITY.
- Published in:
- Learning Disability Quarterly, 2001, v. 24, n. 3, p. 141, doi. 10.2307/1511240
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- Publication type:
- Article
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2368, doi. 10.1093/brain/awae014
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- Publication type:
- Article
Effect of disease‐associated variants in TREM2 on splicing and gene dosage.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.077444
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- Publication type:
- Article
Effect of disease‐associated variants in TREM2 on splicing and gene dosage.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.077444
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- Publication type:
- Article
Functional characterization of hiPSCs‐derived glial cells and neurons from patients harboring a TREM2 loss of function mutation.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.058712
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- Publication type:
- Article
Genome scan for cognitive trait loci of dyslexia: Rapid naming and rapid switching of letters, numbers, and colors.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 4, p. 345, doi. 10.1002/ajmg.b.32237
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- Publication type:
- Article
EFFECT OF SIMVASTATIN ON CSF ALZHEIMER’S DISEASE BIOMARKERS IN COGNITIVELY NORMAL ADULTS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1254, doi. 10.1016/j.jalz.2017.06.1869
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- Publication type:
- Article
Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, n. 1, p. 2, doi. 10.1016/j.jalz.2015.05.020
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- Publication type:
- Article
The Effect of Algorithms on Copy Number Variant Detection.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014456
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- Publication type:
- Article
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
- Published in:
- 2018
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- Publication type:
- journal article
Integrative analysis of RUNX1 downstream pathways and target genes.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-363
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- Publication type:
- Article
R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 8, p. 920, doi. 10.1001/jamaneurol.2015.0979
- By:
- Publication type:
- Article
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-018-0343-z
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- Publication type:
- Article
Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors.
- Published in:
- Journal of Genetic Counseling, 2005, v. 14, n. 3, p. 165, doi. 10.1007/s10897-005-3241-5
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- Publication type:
- Article
T(8;21) With a phenotype of chronic myeloid leukemia.
- Published in:
- American Journal of Hematology, 1988, v. 28, n. 4, p. 266, doi. 10.1002/ajh.2830280410
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- Publication type:
- Article
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 1046, doi. 10.1002/acn3.51786
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- Publication type:
- Article
Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.559342
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- Publication type:
- Article
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 16, p. 3259, doi. 10.1093/hmg/ddt180
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- Publication type:
- Article
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.
- Published in:
- Science Signaling, 2022, v. 15, n. 753, p. 1, doi. 10.1126/scisignal.abk1147
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- Publication type:
- Article
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153864
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- Publication type:
- Article
Novel TREM2 splicing isoform that lacks the V‐set immunoglobulin domain is abundant in the human brain.
- Published in:
- Journal of Leukocyte Biology, 2021, v. 110, n. 5, p. 829, doi. 10.1002/JLB.2HI0720-463RR
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- Publication type:
- Article
Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas.
- Published in:
- Genes, Chromosomes & Cancer, 1996, v. 16, n. 2, p. 138, doi. 10.1002/(SICI)1098-2264(199606)16:2<138::AID-GCC8>3.0.CO;2-0
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- Publication type:
- Article
Global Processing Speed in Children With Low Reading Ability and in Children and Adults With Typical Reading Ability: Exploratory Factor Analytic Models.
- Published in:
- 2011
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- Publication type:
- Journal Article
Global Processing Speed in Children With Low Reading Ability and in Children and Adults With Typical Reading Ability: Exploratory Factor Analytic Models.
- Published in:
- Journal of Speech, Language & Hearing Research, 2011, v. 54, n. 3, p. 885, doi. 10.1044/1092-4388(2010/10-0135)
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- Publication type:
- Article
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pgen.1002334
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- Publication type:
- Article
Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1672, doi. 10.1002/humu.22437
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- Publication type:
- Article
Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression.
- Published in:
- Archives of Clinical Neuropsychology, 2022, v. 37, n. 1, p. 217, doi. 10.1093/arclin/acab026
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- Publication type:
- Article
Genome Scan for Spelling Deficits: Effects of Verbal IQ on Models of Transmission and Trait Gene Localization.
- Published in:
- Behavior Genetics, 2011, v. 41, n. 1, p. 31, doi. 10.1007/s10519-010-9390-9
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- Publication type:
- Article
Genome Scan of a Nonword Repetition Phenotype in Families with Dyslexia: Evidence for Multiple Loci.
- Published in:
- Behavior Genetics, 2008, v. 38, n. 5, p. 462, doi. 10.1007/s10519-008-9215-2
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- Publication type:
- Article
Familial Aggregation Patterns in Mathematical Ability.
- Published in:
- Behavior Genetics, 2004, v. 34, n. 1, p. 51, doi. 10.1023/B:BEGE.0000009476.33020.b9
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- Publication type:
- Article
Familial Aggregation of Dyslexia Phenotypes.
- Published in:
- Behavior Genetics, 2000, v. 30, n. 5, p. 385, doi. 10.1023/A:1002700605187
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- Publication type:
- Article
ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.
- Published in:
- 2017
- By:
- Publication type:
- Letter
ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
- Published in:
- 2016
- By:
- Publication type:
- Letter
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.
- Published in:
- Movement Disorders, 2010, v. 25, n. 10, p. 1409, doi. 10.1002/mds.23085
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- Publication type:
- Article
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
- Published in:
- Human Mutation, 1998, v. 11, n. 3, p. 231, doi. 10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K
- By:
- Publication type:
- Article
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 743, doi. 10.1093/hmg/8.5.743
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- Publication type:
- Article
CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1779, doi. 10.1093/hmg/7.11.1779
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- Publication type:
- Article
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 8, p. 639
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- Publication type:
- Article
RFLP detected by a genomic probe from the human X-Iinked proteolipid protein gene, PLP.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 4, p. 288
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- Publication type:
- Article
Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0185777
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- Publication type:
- Article
Expression of cartilage extracellular matrix and potential regulatory genes in a new human chondrosarcoma cell line.
- Published in:
- Journal of Orthopaedic Research, 1998, v. 16, n. 5, p. 521, doi. 10.1002/jor.1100160502
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- Publication type:
- Article