Neurology: Genetics

2.7(top 20%)

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646(top 20%)

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8.8K(top 20%)

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40(top 20%)

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2.7(top 20%)

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787

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10.2K

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58(top 20%)

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Top Articles

#	Title	Journal	Year	Citations
1	KCNQ2 encephalopathy	Neurology: Genetics	2016	196
2	Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk	Neurology: Genetics	2016	166
3	The Alzheimer's Disease Sequencing Project: Study design and sample selection	Neurology: Genetics	2017	141
4	Antisense oligonucleotides	Neurology: Genetics	2019	137
5	Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy	Neurology: Genetics	2016	125
6	Genetic risk of Parkinson disease and progression:	Neurology: Genetics	2019	109
7	Diagnostic odyssey of patients with mitochondrial disease	Neurology: Genetics	2018	92
8	Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease	Neurology: Genetics	2015	90
9	Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood	Neurology: Genetics	2016	86
10	GNAO1 encephalopathy	Neurology: Genetics	2017	84
11	Clinical and genetic study of hereditary spastic paraplegia in Canada	Neurology: Genetics	2017	82
12	Late-onset vs nonmendelian early-onset Alzheimer disease	Neurology: Genetics	2020	82
13	Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies	Neurology: Genetics	2016	76
14	The Clinical Outcome Study for dysferlinopathy	Neurology: Genetics	2016	75
15	GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis	Neurology: Genetics	2016	74
16	ABCA7 frameshift deletion associated with Alzheimer disease in African Americans	Neurology: Genetics	2016	74
17	Delineating MT-ATP6 -associated disease	Neurology: Genetics	2020	73
18	Loss-of-function variants of SCN8A in intellectual disability without seizures	Neurology: Genetics	2017	66
19	SORL1 mutations in early- and late-onset Alzheimer disease	Neurology: Genetics	2016	65
20	Late-onset Alzheimer disease risk variants mark brain regulatory loci	Neurology: Genetics	2015	64
21	Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy	Neurology: Genetics	2017	64
22	Epileptic spasms are a feature of DEPDC5 mTORopathy	Neurology: Genetics	2015	63
23	CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease	Neurology: Genetics	2015	62
24	Genetic analysis for a shared biological basis between migraine and coronary artery disease	Neurology: Genetics	2015	61
25	Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation	Neurology: Genetics	2018	58
26	Psychometric properties of the Friedreich Ataxia Rating Scale	Neurology: Genetics	2019	57
27	Defining the spectrum of frontotemporal dementias associated with TARDBP mutations	Neurology: Genetics	2016	56
28	Epilepsy with auditory features	Neurology: Genetics	2015	55
29	Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation	Neurology: Genetics	2018	55
30	Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations	Neurology: Genetics	2017	53
31	Research conference summary from the 2014 International Task Force on ATP1A3 -Related Disorders	Neurology: Genetics	2017	52
32	CDKL5 variants	Neurology: Genetics	2017	52
33	Delineating FOXG1 syndrome	Neurology: Genetics	2018	51
34	Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia	Neurology: Genetics	2016	50
35	Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease	Neurology: Genetics	2019	50
36	Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS	Neurology: Genetics	2015	48
37	Phenotypic and molecular analyses of primary lateral sclerosis	Neurology: Genetics	2015	48
38	Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis	Neurology: Genetics	2015	46
39	Clinical and imaging findings in Parkinson disease associated with the A53E SNCA mutation	Neurology: Genetics	2015	45
40	Clinical and genetic features of cervical dystonia in a large multicenter cohort	Neurology: Genetics	2016	44
41	Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations	Neurology: Genetics	2018	44
42	Anti-inflammatory effects of dietary vitamin D ₃ in patients with multiple sclerosis	Neurology: Genetics	2018	43
43	Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation	Neurology: Genetics	2015	42
44	Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders	Neurology: Genetics	2018	42
45	Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease	Neurology: Genetics	2016	41
46	MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)	Neurology: Genetics	2016	41
47	Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes	Neurology: Genetics	2017	41
48	Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1	Neurology: Genetics	2017	40
49	ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia	Neurology: Genetics	2018	40
50	Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort	Neurology: Genetics	2020	40

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