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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Tuberous Sclerosis
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
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The Tuberous Sclerosis Complex
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Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003
N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Hereditary Hemorrhagic Telangiectasia
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Brain Tumors
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Neuroimaging Features of Biotinidase Deficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Sturge-Weber Syndrome
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Alzheimers Disease
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Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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Recurrent Cerebral Ischemia During Pregnancies
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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Ehlers-Danlos Syndromes
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Muscular Dystrophies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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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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Amyotrophic Lateral Sclerosis
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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The Autosomal Recessive Cerebellar Ataxias
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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Dopa-Responsive Dystonia Revisited
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Tuberous Sclerosis Complex: A Tale of Two Genes
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Spinal Muscular Atrophy
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Neurofibromatosis
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Amyotrophic Lateral Sclerosis
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Parkinson's Disease
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Amyotrophic Lateral Sclerosis
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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