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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Melas Syndrome
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Molecular and Neurological Features of MELAS Syndrome in Paediatric Patients: A Case Series and Review of the Literature
Mal Genet Genomic Med 10:e1955, Seed,L.M.,et al, 2022
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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A 10-Year-Old Girl with Muscle Stiffness
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Sturge-Weber Syndrome
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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MELAS
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Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012
Diagnosis and New Treatment in Muscle Channelopathies
JNNP 80:360-365, Meola,G.,et al, 2009
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Alexander Disease, Ventricular Garlands and Abnormalities of the Medulla and Spinal Cord
Neurol 66:494-498,468, van der Knaap,M.S.,et al, 2006
Metabolic Disease and Stroke: MELAS
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Glycogen-Storage Disease Type II
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
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Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
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Genetics and Physiology of the Myotonic Muscle Disorders
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