A 9-Year-Old Girl with CNS Immune Dysregulation
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Neonatal Seizures
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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Molybdenum Cofactor Deficiency
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Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Angelman Syndrome Revisited
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Niemann-Pick Disease Type C: Two Cases and an Update
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Prader-Willi and Angelman Syndromes
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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An unusual Cause of Apparent Epilepsy:ECG & EEG Findings in a Case of Jervell Lange-Neilson Syndrome
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Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
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Niemann-Pick Type C Disease
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A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
Melas Syndrome
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Amyotrophic Lateral Sclerosis
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Adult-Onset Niemann-Pick Disease Type C Masquerading As Spinocerebellar Ataxias
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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"Disappearing Infarct" Is Late-Onset MELAS
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Duchenne Muscular Dystrophy
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
AJNR 41:167-173, Bhatia,K.D.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Ehlers-Danlos Syndromes
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
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