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Neurology: Genetics

短名	Neurol. Genet.
Journal Impact	2.99
国际分区	GENETICS & HEREDITY(Q2)
期刊索引	SCI Q2中科院 3 区

ISSN	2376-7839
h-index	37
国内分区	医学(3区)医学临床神经病学(3区)医学遗传学(3区)

《Neurology: Genetics》是一本在线开放获取期刊，专注于神经遗传学领域的同行评审研究。该期刊欢迎发表所有与神经遗传学相关的原创文章，包括罕见和常见的遗传变异、基因型与表型的相关性、已知疾病基因突变导致的异常表型，以及与疾病相关的潜在遗传变异。此外，《Neurology: Genetics》还将发布与遗传疾病风险和药物基因组学相关的研究成果。期刊也欢迎基于基因的临床试验（如病毒、ASO等）的结果，但基因工程模型系统并不是神经病学的主要关注点，然而，使用模型系统进行治疗试验的研究，包括报告阴性结果的研究，仍然受到欢迎。

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涉及主题	生物医学遗传学化学生物化学内科学基因病理心理学精神科疾病神经科学突变表型
出版信息	出版商: Lippincott Williams and Wilkins，出版周期: ，期刊类型: journal
基本数据	创刊年份: 2015，原创研究文献占比: 93.15%，自引率:0.00%， Gold OA占比: 99.42%
平均审稿周期	网友分享经验：15 Weeks

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Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing

2024-10-4

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy

2024-10-1

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family

2024-10-1

Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke

2024-10-1

Ictal and Postictal Central Apnea in DEPDC5 -Related Epilepsy

2024-10-1

Macrostructural Brain Abnormalities in Spinal Muscular Atrophy

2024-9-20

Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation

2024-9-18

Global Presence and Penetrance of CSF1R -Related Disorder

2024-9-13

Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1

2024-9-12

Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts

2024-9-6

Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk

2024-9-6

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia

2024-9-6

Genetic Insights Into Hypothalamic Hamartoma

2024-9-5

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility

2024-8-23

CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy

2024-8-23

Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1

2024-8-23

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder

2024-8-6

Clinicopathologic Characterization of 2 Individuals With TBK1 Variants—1 Novel Splice Variant, 2 Proteinopathies

2024-7-24

Early Peripheral Nerve Involvement at the Time of Coughing in Patients With RFC1 Intronic Expansion

2024-7-19

Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy

2024-7-16

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy

2024-7-16

Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly

2024-7-16

CSF1R -Related Disorder

2024-7-16

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans

2024-7-12

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

2024-7-11

A Novel Pattern of Dystonia in DYT- VPS16

2024-7-8

CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy

2024-7-8

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency

2024-7-3

Novel Genetic Variant in HUWE1

2024-6-13

MRI Insights in Hypomyelinating Disorders With Early Myelination Disturbances

2024-6-11

TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy

2024-6-1

Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia

2024-6-1

Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology

2024-5-29

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria

2024-5-29

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

2024-5-29

Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis

2024-5-29

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1 -Related Disorder

2024-5-22

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans

2024-5-20

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy

2024-5-16

Correction to Preprint Server Information

2024-5-16

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity

2024-5-7

Acknowledgment to Reviewers

2024-5-7

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever

2024-4-26

RFC1 Repeat Distribution in the Cypriot Population

2024-4-26

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

2024-4-26

Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis

2024-4-26

Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia

2024-4-24

APOE ε4 Allele Frequency Among Cognitively Healthy Members of an Ojibwe Tribal Nation

2024-4-10

Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing

2024-4-9

Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy

2024-4-1

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Neurology: Genetics

阅读文献时，研飞即可帮你快速了解期刊，查询影响因子与分区，智能高亮期刊预警！

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最新文章

Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family

Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke

Ictal and Postictal Central Apnea in <i>DEPDC5</i> -Related Epilepsy

Macrostructural Brain Abnormalities in Spinal Muscular Atrophy

Refractory Epilepsy in Adult Patient With <i>COQ8A</i> Variant Improves With CoQ10 Supplementation

Global Presence and Penetrance of <i>CSF1R</i> -Related Disorder

Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1

Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts

Blended Phenotype of <i>NOTCH3</i> and <i>RNF213</i> Variants With Accelerated Large and Small Artery Crosstalk

A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia

Genetic Insights Into Hypothalamic Hamartoma

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility

CGG/CCG Repeat Expansions in <i>LOC642361/NUTM2B-AS1</i> in Thai Patients With Oculopharyngodistal Myopathy

Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1

Inherited <i>PURA</i> Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder

Clinicopathologic Characterization of 2 Individuals With <i>TBK1</i> Variants—1 Novel Splice Variant, 2 Proteinopathies

Early Peripheral Nerve Involvement at the Time of Coughing in Patients With <i>RFC1</i> Intronic Expansion

Compound Heterozygous Variants of <i>GOSR2</i> Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy

Complex <i>SMN</i> Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy

Multiplex Consanguineous Family Highlights <i>CLASP1</i> as a Candidate Gene for Lissencephaly

<i>CSF1R</i> -Related Disorder

Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

A Novel Pattern of Dystonia in DYT- <i>VPS16</i>

CGG/CCG Repeat Expansions in <i>LOC642361/NUTM2B-AS1</i> in Thai Patients With Oculopharyngodistal Myopathy

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency

Novel Genetic Variant in <i>HUWE1</i>

MRI Insights in Hypomyelinating Disorders With Early Myelination Disturbances

<i>TARDBP</i> Mutations in Facial-Onset Sensory and Motor Neuronopathy

Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia

Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

Adaptive and Innate Immunity Are Key Drivers of Age at Onset of Multiple Sclerosis

Tribal Founder <i>EMC1</i> Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of <i>EMC1</i> -Related Disorder

Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans

Multigene Panel Testing in a Large Cohort of Adults With Epilepsy

Correction to Preprint Server Information

Homozygosity of a Founder Variant c.1508dupC in <i>DOK7</i> Causes Congenital Myasthenia With Variable Severity

Acknowledgment to Reviewers

<i>ATP1A3</i> Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever

<i>RFC1</i> Repeat Distribution in the Cypriot Population

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Two Novel Variants in <i>PI4KA</i> in a Family Presenting With Hereditary Spastic Paraparesis

Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia

<i>APOE ε4</i> Allele Frequency Among Cognitively Healthy Members of an Ojibwe Tribal Nation

Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing

Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy

帮你贴心管理全部的文献研飞ivySCI，高效的论文管理

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