Lv1
30 积分 2025-08-26 加入
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
2个月前
已完结
Reader Response: Teaching NeuroImage: Leber Hereditary Optic Neuropathy With Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
3个月前
已完结
Late-onset Leber's hereditary optic neuropathy presenting with longitudinally extensive myelitis harbouring the m.14484T>C mutation: Extending the genotype-phenotype spectrum
3个月前
已完结
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation
4个月前
已完结
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome
4个月前
已完结
16p11.2-RELATED PAROXYSMAL KINESIGENIC DYSKINESIA AND DOPA-RESPONSIVE PARKINSONISM IN A CHILD
4个月前
已完结
Episodic ataxia in child with 16p11.2 deletion including PRRT2
4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
4个月前
已完结
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
5个月前
已完结
Weighing the Risks of Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy
6个月前
已完结
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