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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
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The Cherry-red Spot-Myoclonus Syndrome
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Amaurotic Family Idiocy
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
A 22-Year-Old Man with Progressive Bilateral Visual Loss
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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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
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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Neurological Management of Von Hippel-Lindau Disease
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Red Papules on the Tongue of a Patient with Hemiparesis
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Mystery Case: A Young Boy with Myoclonic Jerks
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Aicardi-Gouti�res Syndrome
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Clinical and Genetic Studies of Fatal Familial Insomnia
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Familial Alzheimer's Disease
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
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Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
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Clinicopath Conf
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Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
Ann Neurol 31:663-668, Ryan,S.G.,et al, 1992
Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
Neurol 41:1923-1927, Pulst,S.M.,et al, 1991
Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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The Diagnosis of Neurofibromatosis-1 in the Child Under the Age of 6 Years
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