Erratum: Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers [0.03%]
dystrophinopathy基因缺陷的女性携带者全身骨骼肌MRI图像模式中的错误之处:致歉公告
Alejandra P Vigliano,Leonela Luce,José Manuel Pastor Rueda et al.
Alejandra P Vigliano et al.
[This corrects the article DOI: 10.1212/NXG.0000000000200301.]. © 2026 American Academy of Neurology.
Published Erratum
Neurology. Genetics. 2026 Jan 23;12(1):e200349. DOI:10.1212/NXG.0000000000200349 2026
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy [0.03%]
国际脊髓和球麻痹患者遗传素养调查
Shinichiro Yamada,Atsushi Hashizume,Daisuke Ito et al.
Shinichiro Yamada et al.
Background and objectives: Genetic literacy is important for the development and implementation of novel therapies for inherited neurodegenerative diseases such as spinal and bulbar muscular atrophy (SBMA). However, genet...
Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report [0.03%]
导致桥脑小脑发育不全和迟发型神经 ferritinopathy 的常染色体显性 FTH1 基因变异：一例报告
Jasmijn Annemiek Hebbink,Jikke-Mien F Niermeijer,Elene Vroegindeweij et al.
Jasmijn Annemiek Hebbink et al.
Objectives: We report on a patient with a distinct clinical and neuroradiologic phenotype and a de novo variant in the FTH1 gene. Methods: ...
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity [0.03%]
线粒体疾病中免疫细胞的线粒体表型基本保持不变且不反映疾病严重程度
Cynthia C Liu,Mangesh Kurade,Anna S Monzel et al.
Cynthia C Liu et al.
Background and objectives: The aim of this study was to profile immune cell mitochondrial phenotypes in mitochondrial diseases (MitoD) and evaluate how these phenotypes relate to disease manifestations or biomarkers. ...
Characterization of Sleep in Alternating Hemiplegia of Childhood: An International Survey [0.03%]
儿童交替性偏瘫睡眠特征的国际调查研究
Francesco Fortunato,Umesh Vivekananda,Katherine Elizabeth Behl et al.
Francesco Fortunato et al.
Background and objectives: Few studies have investigated sleep features in people with alternating hemiplegia of childhood (AHC). In this study, we present a bespoke survey of individuals with AHC to characterize sleep di...
Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution [0.03%]
小儿先天性脑积水的临床特征及遗传分布
Issa Alawneh,Alberto Alemán,Elisa Nigro et al.
Issa Alawneh et al.
Background and objectives: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of hereditary peripheral neuropathies. While pediatric-onset CMT exhibits unique clinical and genetic characteristics, data on this sub...
NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results [0.03%]
普勒汉-麦德美综合征患儿和青少年使用NNZ-2591的单组、开放标签II期临床试验结果
Ann M Neumeyer,Siddharth Srivastava,J Lloyd Holder et al.
Ann M Neumeyer et al.
Background and objectives: Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder with no currently approved treatments. NNZ-2591, a synthetic analog of the insulin-like growth factor 1 metabolite cy...
Filippo Manti,Giacomina Ricciardi,Francesca Nardecchia et al.
Filippo Manti et al.
Background and objectives: Autosomal recessive DNAJC12 disease, the most recently identified disorder of biogenic amine synthesis, presents with a broad clinical spectrum and variable outcomes, ranging from asymptomatic p...
Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy [0.03%]
HSPB8肌病和远端运动神经病变的分子和病理谱系扩展
Brendan Nicholas Putko,Eric J Sorenson,Gaofeng Cui et al.
Brendan Nicholas Putko et al.
Objectives: HSPB8 variants cause myopathy, distal motor neuropathy, and Charcot-Marie-Tooth disease. We describe 2 patients who expand the molecular and pathologic spectrum of HSPB8 disorder. ...
Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome [0.03%]
ITPR1杂合子变异的早期儿童表现形式不仅限于先天性共济失调和吉莱斯皮综合征
Lara E Terry,Holly Dubbs,Kelly H Markwalter et al.
Lara E Terry et al.
Background and objectives: Heterozygous ITPR1 variants have been previously linked to multiple human disease phenotypes, including congenital ataxia and Gillespie syndrome. Previous reports have described potential genoty...