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Sparse semiparametric canonical correlation analysis for data of mixed types.
- Published in:
- Biometrika, 2020, v. 107, n. 3, p. 609, doi. 10.1093/biomet/asaa007
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- Publication type:
- Article
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086
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- Publication type:
- Article
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01277-5
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- Publication type:
- Article
BRAT1 links Integrator and defective RNA processing with neurodegeneration.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32763-6
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- Publication type:
- Article
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 5, p. 1, doi. 10.15252/emmm.202013258
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- Publication type:
- Article
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 6, p. 397, doi. 10.1177/0883073818764941
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- Publication type:
- Article
Comorbid Medical Conditions in Friedreich Ataxia.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 9, p. 1161, doi. 10.1177/0883073816643408
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- Publication type:
- Article
Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 11, p. 1472, doi. 10.1177/0883073815570154
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- Publication type:
- Article
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0234-9
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- Publication type:
- Article
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3528, doi. 10.1093/brain/awad033
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- Publication type:
- Article
Reply: IREB2-associated neurodegeneration.
- Published in:
- 2019
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- Publication type:
- Letter
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
POLR3A variants in hereditary spastic paraplegia and ataxia.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
- Published in:
- 2016
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- Publication type:
- commentary
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Dementia care in Taiwan during COVID‐19.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.055159
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- Publication type:
- Article
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.
- Published in:
- 2022
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- Publication type:
- journal article
Ultra-high dimensional variable selection with application to normative aging study: DNA methylation and metabolic syndrome.
- Published in:
- BMC Bioinformatics, 2017, v. 18, p. 1, doi. 10.1186/s12859-017-1568-1
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- Publication type:
- Article
Noninvasive Ultrasonic Assessment of Chick Embryo Cardiac Function.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 588, n. 1, p. 383, doi. 10.1111/j.1749-6632.1990.tb13240.x
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- Publication type:
- Article
Engaging South Asian youth and families: A clinical review.
- Published in:
- International Journal of Social Psychiatry, 2020, v. 66, n. 6, p. 584, doi. 10.1177/0020764020922881
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- Publication type:
- Article
Response to phenotypic hetergeneity of POMT2 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 746, doi. 10.1002/ajmg.a.38591
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- Publication type:
- Article
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3082, doi. 10.1002/ajmg.a.38394
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- Publication type:
- Article
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 712, doi. 10.1002/ajmg.a.37483
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- Publication type:
- Article
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 748, doi. 10.1002/ajmg.a.36322
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- Publication type:
- Article
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
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- Publication type:
- Article
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1579, doi. 10.1002/ajmg.a.35399
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- Publication type:
- Article
Loss of aryl hydrocarbon receptor potentiates FoxM1 signaling to enhance self‐renewal of colonic stem and progenitor cells.
- Published in:
- EMBO Journal, 2020, v. 39, n. 19, p. 1, doi. 10.15252/embj.2019104319
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- Publication type:
- Article
Regularized estimation in sparse high-dimensional multivariate regression, with application to a DNA methylation study.
- Published in:
- Statistical Applications in Genetics & Molecular Biology, 2017, v. 16, n. 3, p. 159, doi. 10.1515/sagmb-2016-0073
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- Publication type:
- Article
Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
- Published in:
- 2014
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- Publication type:
- journal article
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
- Published in:
- Pediatric Radiology, 2014, v. 44, n. 2, p. 222, doi. 10.1007/s00247-013-2782-2
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- Publication type:
- Article
Differences in trends of perceived inpatient care quality based on regional socioeconomic level in the United States and Taiwan.
- Published in:
- Health Services Research, 2021, v. 56, p. 1418, doi. 10.1111/1475-6773.13872
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- Publication type:
- Article
Differences in trends of perceived inpatient care quality based on regional socioeconomic level in the United States and Taiwan.
- Published in:
- 2021
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- Publication type:
- journal article
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139343
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- Publication type:
- Article
DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction.
- Published in:
- Biochemical Genetics, 2018, v. 56, n. 1/2, p. 56, doi. 10.1007/s10528-017-9829-2
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- Publication type:
- Article
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
- Published in:
- Muscle & Nerve, 2017, v. 56, n. 5, p. E41, doi. 10.1002/mus.25737
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- Publication type:
- Article
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 5, p. 752, doi. 10.1002/mus.23274
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- Publication type:
- Article
Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities.
- Published in:
- American Journal of Neuroradiology, 2024, v. 45, n. 10, p. 1578, doi. 10.3174/ajnr.A8361
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- Publication type:
- Article
Prospective study of activities of daily living outcomes in children with cerebellar atrophy.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 5, p. 460, doi. 10.1111/dmcn.12289
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- Publication type:
- Article
Neurological complications of cardio-facio-cutaneous syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 12, p. 894, doi. 10.1111/j.1469-8749.2007.00894.x
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- Publication type:
- Article
Ataxia and pancytopenia caused by a mutation in TINF2.
- Published in:
- Human Genetics, 2008, v. 124, n. 5, p. 507, doi. 10.1007/s00439-008-0576-7
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- Publication type:
- Article
3532 Vitamin D assay utilization and outcomes in pregnant women in an urban safety net medical center: a retrospective cohort study.
- Published in:
- 2019
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- Publication type:
- Abstract
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
- Published in:
- Journal of Neurodevelopmental Disorders, 2014, v. 6, n. 1, p. 1, doi. 10.1186/1866-1955-6-9
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- Publication type:
- Article
Changes in fetal hemodynamics with terbutaline treatment and premature labor.
- Published in:
- 1990
- By:
- Publication type:
- journal article
Implementation and sustainability of safe consumption sites: a qualitative systematic review and thematic synthesis.
- Published in:
- Harm Reduction Journal, 2022, v. 19, n. 1, p. 1, doi. 10.1186/s12954-022-00655-z
- By:
- Publication type:
- Article
PNKP is required for maintaining the integrity of progenitor cell populations in adult mice.
- Published in:
- Life Science Alliance, 2021, v. 4, n. 9, p. 1, doi. 10.26508/lsa.202000790
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- Publication type:
- Article
Massive CAG Repeat Expansion and Somatic Instability in Maternally Transmitted Infantile Spinocerebellar Ataxia Type 7.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 2, p. 219, doi. 10.1001/jamaneurol.2014.1902
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- Publication type:
- Article
Microbial Networks in SPRING - Semi-parametric Rank-Based Correlation and Partial Correlation Estimation for Quantitative Microbiome Data.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00516
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- Publication type:
- Article
'Both Sides of the Wheelchair': The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.
- Published in:
- Journal of Genetic Counseling, 2015, v. 24, n. 5, p. 732, doi. 10.1007/s10897-014-9801-9
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- Publication type:
- Article
Simple Quasi-Bayes Approach for Modeling Mean Medical Costs.
- Published in:
- International Journal of Biostatistics, 2020, v. 16, n. 1, p. 1, doi. 10.1515/ijb-2018-0122
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- Publication type:
- Article