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Amyotrophic Lateral Sclerosis
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Spinal Muscular Atrophy
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Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
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Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
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Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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A 42-year-old man with unilateral leg weakness
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Genetics of Familial Amyotrophic Lateral Sclerosis
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Familial Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Distal Hereditary Upper Limb Muscular Atrophy
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Hereditary Form of Parkinsonism-Dementia
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Prognosis in Familial ALS:Progr & Surv in Pts with glu100gly & ala4val Mutations in Cu, Zn Superoxide Dismutase
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Superoxide Dismutase and ALS
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Monomelic Amyotrophy
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Parental Sex Effect in Familial Amyotrophic Lateral Sclerosis
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Familial Adult Motor Neuron Disease:Amyotrophic Lateral Sclerosis
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Frontotemporal Dementia is on the MAP
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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A 28-Year-Old Woman with Vision Loss and an Unusual Gait
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A 53-year-old Woman with Lower Extremity Paresthesias
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Ears of the Lynx Magnetic Resonance Imaging Sign
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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Neuromyelitis Optica Spectrum Disorders
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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Degenerative Diseases of the Nervous System, Olivopontocerebellar Atrophy
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Cerebral Amyloid Angiopathy
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MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Familial Neuromyelitis Optica
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Parental Transmission of MS in a Population-Based Canadian Cohort
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