Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous <scp>GNAL</scp> Mutations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations

Published:2024-06-08 Issue:8 Volume:11 Page:1047-1048
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Magistrelli Luca¹²^ORCID,Contaldi Elena¹²^ORCID,Piola Beatrice³,Caushi Fjorilda³,Carecchio Miryam⁴,D'Alfonso Sandra³,Corrado Lucia³

Affiliation:

1. Movement Disorders Centre, Neurology Unit, Department of Translational Medicine University of Piemonte Orientale Novara Italy

2. Parkinson Institute Milan, ASST G.Pini‐CTO Milan Italy

3. Department of Health Sciences, Centre of Autoimmune and Allergic Diseases (CAAD) University of Piemonte Orientale Novara Italy

4. Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN‐RND), Study Center On Neurodegeneration (CESNE), Department of Neuroscience University of Padua Padua Italy

Publisher

Wiley

Reference10 articles.

1. Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

2. HomozygousGNALmutation associated with familial childhood-onset generalized dystonia

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Mutations in GNAL cause primary torsion dystonia

5. The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP