Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Causal Heterogeneity in Isolated Lissencephaly
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Spinal Muscular Atrophy
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Recurrent Cerebral Ischemia During Pregnancies
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Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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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
Medicine 75:233-250, Murakami,T.,et al, 1996
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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