Found: 89
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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
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
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
Buschke Ollendorff Syndrome: A Case Series.
- Published in:
- 2014
- By:
- Publication type:
- Abstract
Neonatal stroke and haematuria: Answers.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 5, p. 807, doi. 10.1007/s00467-017-3747-8
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- Publication type:
- Article
Neonatal stroke and haematuria: Questions.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 5, p. 805, doi. 10.1007/s00467-017-3745-x
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- Publication type:
- Article
Segmental membranous nephropathy.
- Published in:
- Clinical & Experimental Nephrology, 2021, v. 25, n. 7, p. 700, doi. 10.1007/s10157-021-02056-1
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- Publication type:
- Article
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 9, p. 1742, doi. 10.1002/mds.29524
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- Publication type:
- Article
Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7.
- Published in:
- Movement Disorders, 2021, v. 36, n. 7, p. 1664, doi. 10.1002/mds.28528
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- Publication type:
- Article
Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.
- Published in:
- 2018
- By:
- Publication type:
- case study
Complex genomic rearrangement in <italic>SPG11</italic> due to a DNA replication‐based mechanism.
- Published in:
- Movement Disorders, 2017, v. 32, n. 12, p. 1792, doi. 10.1002/mds.27188
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- 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
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
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
Epigenetic age acceleration and metabolic syndrome in the coronary artery risk development in young adults study.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0767-1
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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
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Abstract
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1239, doi. 10.1002/acn3.51352
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- Publication type:
- Article
Impact of diabetes in the Friedreich ataxia clinical outcome measures study.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 9, p. 622, doi. 10.1002/acn3.439
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- Publication type:
- Article
Progression of Friedreich ataxia: quantitative characterization over 5 years.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 9, p. 684, doi. 10.1002/acn3.332
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- Publication type:
- Article
Frataxin levels in peripheral tissue in Friedreich ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 831, doi. 10.1002/acn3.225
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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
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
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
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 5, p. 730, doi. 10.1002/ana.26275
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- Publication type:
- Article
KCNA2 mutations are rare in hereditary spastic paraplegia.
- Published in:
- 2017
- By:
- Publication type:
- letter
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
Estimating and testing high-dimensional mediation effects in epigenetic studies.
- Published in:
- Bioinformatics, 2016, v. 32, n. 20, p. 3150, doi. 10.1093/bioinformatics/btw351
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- Publication type:
- Article
The Clinicopathologic Spectrum of Membranous Nephropathy with Lupus-Like Features.
- Published in:
- Nephron, 2023, v. 147, n. 7, p. 424, doi. 10.1159/000529437
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- Publication type:
- Article
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1134, doi. 10.1002/mgg3.492
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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
An Unusual Case of Multiple Myeloma with Light-Chain Cast Nephropathy Secondary to a Very Large Plasmacytoma without Bone Marrow Involvement.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Changes in fetal hemodynamics with terbutaline treatment and premature labor.
- Published in:
- 1990
- By:
- Publication type:
- journal 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
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
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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
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
- Published in:
- Nature Communications, 2015, v. 6, n. 7, p. 7623, doi. 10.1038/ncomms8623
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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
- By:
- Publication type:
- journal article
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
Clinic–based study of family history of vascular risk factors and migraine.
- Published in:
- Journal of Headache & Pain, 2005, v. 6, n. 5, p. 412, doi. 10.1007/s10194-005-0239-1
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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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- letter
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.
- Published in:
- 2019
- By:
- 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
- By:
- Publication type:
- commentary
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
- Published in:
- 2016
- By:
- Publication type:
- case study