Neuroimaging Features of Biotinidase Deficiency
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Creutzfeldt-Jakob Disease in a Young Woman
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Brain Tumors
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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