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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Spinal Muscular Atrophy A Timely Review
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Neurofibromatosis Type 2
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Neuroblastoma -- from Genetic Profiles to Clinical Challenge
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The Hereditary Spastic Paraplegias
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Autosomal Dominant Migraine with MRI White-Matter Abnormalities Mapping to the CADASIL Locus
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Natural History in Proximal Spinal Muscular Atrophy
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Clinical Spectrum of CADASIL:A Study of 7 Families
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New Phenotype of the Cerebral Autosomal Dominant Arteriopathy Mapped to Chromosome 19:Migraine as the Prominent Clinical Feature
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