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The Many Faces of Spinocerebellar Ataxia type 8: A Video Series and Review of the Literature (4711)
1小时前
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Unusual Presentation of Self Limiting Neonatal Seizures Along with Other Neurological Manifestations in Siblings Diagnosed with Spinocerebellar Ataxia Type 8 (SCA 8) (P18-11.004)
1小时前
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Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review
6个月前
已完结
Epilepsy and Coenzyme Q10 deficiency with COQ4 variants
6个月前
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Clinical Manifestations Associated with the Domain-Containing Protein 2 Gene Mutation in an Iranian Family with Spastic Paraplegia 54
7个月前
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Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family
7个月前
已完结
Brainstem lesions characteristic of traumatic hyperextension of the head
9个月前
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In Co-morbidities that complicate the treatment and outcomes of Chiari malformation
9个月前
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Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS
1年前
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