Spinal Muscular Atrophy
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Neurologic Crises in Hereditary Tyrosinemia
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
The Tuberous Sclerosis Complex
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Adrenoleukodystrophy
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What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
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Molecular Genetics in Neurology
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Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992
Amaurotic Family Idiocy
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988