Found: 41
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Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.
- Published in:
- Neuroscience Bulletin, 2014, v. 30, n. 6, p. 1010, doi. 10.1007/s12264-014-1467-7
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- Publication type:
- Article
N-methyl-D-aspartate receptors mediate diphosphorylation of extracellular signal-regulated kinases through Src family tyrosine kinases and Ca<sup>2+</sup>/calmodulin-dependent protein kinase II in rat hippocampus after cerebral ischemia.
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- Neuroscience Bulletin, 2007, v. 23, n. 2, p. 107, doi. 10.1007/s12264-007-0015-0
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- Publication type:
- Article
Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.
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- CNS Neuroscience & Therapeutics, 2024, v. 30, n. 4, p. 1, doi. 10.1111/cns.14529
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- Article
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
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- CNS Neuroscience & Therapeutics, 2022, v. 28, n. 11, p. 1779, doi. 10.1111/cns.13917
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- Article
Taste loss as the sole presenting symptom in Chinese patient with facial onset sensory and motor neuronopathy.
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- CNS Neuroscience & Therapeutics, 2021, v. 27, n. 12, p. 1610, doi. 10.1111/cns.13755
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- Article
Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome.
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- CNS Neuroscience & Therapeutics, 2021, v. 27, n. 10, p. 1251, doi. 10.1111/cns.13723
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- Article
Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report.
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- CNS Neuroscience & Therapeutics, 2021, v. 27, n. 6, p. 725, doi. 10.1111/cns.13639
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- Article
Diffuse intracranial calcification, deep medullary vein engorgement, and symmetric white matter involvement in a patient with systemic lupus erythematosus.
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- CNS Neuroscience & Therapeutics, 2020, v. 26, n. 2, p. 278, doi. 10.1111/cns.13250
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- Article
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders.
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- CNS Neuroscience & Therapeutics, 2020, v. 26, n. 1, p. 39, doi. 10.1111/cns.13147
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- Article
Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.
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- CNS Neuroscience & Therapeutics, 2017, v. 23, n. 9, p. 707, doi. 10.1111/cns.12719
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- Article
Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
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- 2021
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- Publication type:
- journal article
Numerical simulation of unsteady flow in the control stage of an industry steam turbine under partial admission condition.
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- Journal of Mechanical & Electrical Engineering, 2014, v. 31, n. 10, p. 1258, doi. 10.3969/j.issn.1001-4551.2014.10.005
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- Article
A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1927
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- Publication type:
- Article
Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1065
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- Publication type:
- Article
Modeling Neurological Disease by Rapid Conversion of Human Urine Cells into Functional Neurons.
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- Thrombosis, 2015, p. 1, doi. 10.1155/2016/2452985
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- Publication type:
- Article
Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy.
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- CNS Neuroscience & Therapeutics, 2015, v. 21, n. 8, p. 626, doi. 10.1111/cns.12412
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- Publication type:
- Article
PRRT2 c.649dup C Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia.
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- CNS Neuroscience & Therapeutics, 2013, v. 19, n. 1, p. 61, doi. 10.1111/cns.12034
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- Publication type:
- Article
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1252, doi. 10.1038/ng.1008
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- Publication type:
- Article
Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers–Danlos Syndrome Type IV.
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- Journal of Pain Research, 2019, v. 12, p. 3215, doi. 10.2147/JPR.S218580
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- Publication type:
- Article
Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
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- 2016
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- Publication type:
- journal article
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 5, p. 517, doi. 10.3390/brainsci12050517
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- Publication type:
- Article
20 potentially new compounds and 11 new bioactive constituents found in Smilacis Glabrae Rhizoma utilizing HPLC‐DAD‐ESI‐IT‐TOF‐MS<sup>n</sup>.
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- Phytochemical Analysis, 2024, v. 35, n. 5, p. 1186, doi. 10.1002/pca.3352
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- Publication type:
- Article
Purification and Structure Characterization of the Crude Polysaccharide from the Fruiting Bodies of Butyriboletus pseudospeciosus and Its Modulation Effects on Gut Microbiota.
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- Molecules, 2023, v. 28, n. 6, p. 2679, doi. 10.3390/molecules28062679
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- Publication type:
- Article
Study on Virulence Genes, Drug Resistance and Molecular Epidemiology of Klebsiella pneumoniae with High Virulence in Inner Mongolia, China.
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- Infection & Drug Resistance, 2023, v. 16, p. 1133, doi. 10.2147/IDR.S391468
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- Publication type:
- Article
Novel stop‐gain RNF170 variation detected in a Chinese family with adolescent‐onset hereditary spastic paraplegia.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 87, doi. 10.1111/cge.14219
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- Publication type:
- Article
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease.
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- Clinical Genetics, 2019, v. 96, n. 5, p. 439, doi. 10.1111/cge.13616
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- Publication type:
- Article
Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.
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- Clinical Genetics, 2019, v. 95, n. 5, p. 637, doi. 10.1111/cge.13517
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- Publication type:
- Article
Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population.
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- Journal of Neurology, 2021, v. 268, n. 2, p. 506, doi. 10.1007/s00415-020-10184-z
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- Publication type:
- Article
CHIP control degradation of mutant ETF:QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 450, doi. 10.1002/jimd.12361
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- Article
Chemical Constituents of the Rhizomes of <i>Alpinia oxyphylla</i>.
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- Chemistry of Natural Compounds, 2013, v. 49, n. 5, p. 934, doi. 10.1007/s10600-013-0784-9
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- Publication type:
- Article
Unilateral versus bilateral stent insertion for malignant hilar biliary obstruction.
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- Abdominal Radiology, 2017, v. 42, n. 11, p. 2745, doi. 10.1007/s00261-017-1174-8
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- Publication type:
- Article
Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
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- Movement Disorders, 2022, v. 37, n. 3, p. 608, doi. 10.1002/mds.28939
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- Publication type:
- Article
SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.746060
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- Article
The association of XRCC1 polymorphism with osteosarcoma risk, clinicopathologic features, and prognosis in a Chinese Han population.
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- Cancer Management & Research, 2018, v. 10, p. 4959, doi. 10.2147/CMAR.S177452
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- Publication type:
- Article
Modeling Neurological Disease by Rapid Conversion of Human Urine Cells into Functional Neurons.
- Published in:
- Stem Cells International, 2015, p. 1, doi. 10.1155/2016/2452985
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- Publication type:
- Article
Exploring the In Vivo Existence Forms (23 Original Constituents and 147 Metabolites) of Astragali Radix Total Flavonoids and Their Distributions in Rats Using HPLC-DAD-ESI-IT-TOF-MS n.
- Published in:
- Molecules, 2020, v. 25, n. 23, p. 5560, doi. 10.3390/molecules25235560
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- Publication type:
- Article
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.
- Published in:
- Translational Neurodegeneration, 2019, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40035-019-0157-9
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- Publication type:
- Article
Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.
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- Neuroscience Bulletin, 2024, v. 40, n. 7, p. 952, doi. 10.1007/s12264-023-01157-z
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- Publication type:
- Article
Author Correction: TMEM151A variants cause paroxysmal kinesigenic dyskinesia.
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- 2021
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- Correction Notice
TMEM151A variants cause paroxysmal kinesigenic dyskinesia.
- Published in:
- 2021
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- Publication type:
- Letter to the Editor
Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot‐Marie‐Tooth disease.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 107, doi. 10.1111/jns.12377
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- Publication type:
- Article