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Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.
Hum Mol Genet. 2014 Sep 15;23(R1):R47-53. doi: 10.1093/hmg/ddu203. Epub 2014 May 2.
2
Clinical application of next-generation sequencing to the practice of neurology.
Lancet Neurol. 2019 May;18(5):492-503. doi: 10.1016/S1474-4422(19)30033-X.
3
The genetics of neuropsychiatric diseases: looking in and beyond the exome.
Annu Rev Neurosci. 2015 Jul 8;38:47-68. doi: 10.1146/annurev-neuro-071714-034136. Epub 2015 Apr 2.
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Opportunities and challenges of whole-genome and -exome sequencing.
BMC Genet. 2017 Feb 14;18(1):14. doi: 10.1186/s12863-017-0479-5.
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Next generation sequencing for neurological diseases: new hope or new hype?
Clin Neurol Neurosurg. 2013 Jul;115(7):948-53. doi: 10.1016/j.clineuro.2012.09.030. Epub 2012 Nov 30.
6
Next-generation sequencing in understanding complex neurological disease.
Expert Rev Neurother. 2013 Feb;13(2):215-27. doi: 10.1586/ern.12.165.
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Next-generation sequencing for mitochondrial disorders.
Br J Pharmacol. 2014 Apr;171(8):1837-53. doi: 10.1111/bph.12469.
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Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.
Neurobiol Aging. 2013 Oct;34(10):2442.e11-7. doi: 10.1016/j.neurobiolaging.2013.04.029. Epub 2013 May 30.

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Inherited prion disease caused by a novel frameshift mutation of resulting in protein truncation at codon 157.
J Alzheimers Dis. 2025 Aug;106(3):1087-1096. doi: 10.1177/13872877251351182. Epub 2025 Jul 4.
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Cost-effectiveness of a gene sequencing test for Alzheimer's disease in Ontario.
J Community Genet. 2023 Apr;14(2):135-147. doi: 10.1007/s12687-022-00619-7. Epub 2022 Nov 25.
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Disorders of the adrenal cortex: Genetic and molecular aspects.
Front Endocrinol (Lausanne). 2022 Aug 29;13:931389. doi: 10.3389/fendo.2022.931389. eCollection 2022.
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A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study.
Neural Plast. 2020 Aug 18;2020:8078103. doi: 10.1155/2020/8078103. eCollection 2020.
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Genetic architecture of common non-Alzheimer's disease dementias.
Neurobiol Dis. 2020 Aug;142:104946. doi: 10.1016/j.nbd.2020.104946. Epub 2020 May 19.
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Genetic landscape of autism spectrum disorder in Vietnamese children.
Sci Rep. 2020 Mar 19;10(1):5034. doi: 10.1038/s41598-020-61695-8.
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Phosphoinositides: Regulators of Nervous System Function in Health and Disease.
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Epigenetics of the Synapse in Neurodegeneration.
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Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application.
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本文引用的文献

2
TREM2 and neurodegenerative disease.
N Engl J Med. 2013 Oct 17;369(16):1567-8. doi: 10.1056/NEJMc1306509.
3
Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.
Neurobiol Aging. 2014 Mar;35(3):726.e11-9. doi: 10.1016/j.neurobiolaging.2013.09.009. Epub 2013 Oct 9.
6
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.
Neurobiol Aging. 2013 Oct;34(10):2443.e1-2. doi: 10.1016/j.neurobiolaging.2013.04.030. Epub 2013 Jun 4.
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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
JAMA Neurol. 2013 Jun;70(6):727-35. doi: 10.1001/jamaneurol.2013.1925.
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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3.
10
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Lancet. 2013 Apr 20;381(9875):1371-1379. doi: 10.1016/S0140-6736(12)62129-1. Epub 2013 Feb 28.

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