Lv11
40 积分 2025-08-26 加入
Late-onset Leber's hereditary optic neuropathy presenting with longitudinally extensive myelitis harbouring the m.14484T>C mutation: Extending the genotype-phenotype spectrum
2小时前
待确认
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation
1个月前
已完结
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome
1个月前
已完结
16p11.2-RELATED PAROXYSMAL KINESIGENIC DYSKINESIA AND DOPA-RESPONSIVE PARKINSONISM IN A CHILD
1个月前
已完结
Episodic ataxia in child with 16p11.2 deletion including PRRT2
1个月前
已完结
A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome
1个月前
已完结
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
1个月前
已完结
Weighing the Risks of Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy
2个月前
已完结
Secondary failure of lentiviral vector gene therapy in a cerebral adrenoleukodystrophy patient with an ABCD1 whole-gene deletion
2个月前
已完结
Correlation of very long chain fatty acid accumulation and inflammatory disease progression in childhood X-ALD: implications for potential therapies
3个月前
已关闭
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