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Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
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Brain Tumors
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The Dystonias
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Narcolspey
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
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Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
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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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Clinical and Genetic Features in Patients with Reflex Bathing Epilepsy
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Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
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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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Wilson Disease
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Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Neurological Management of Von Hippel-Lindau Disease
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Parkinson Disease Subtypes
JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014
Degenerative Diseases of the Nervous System, Alzheimer Disease
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Degenerative Diseases of the Nervous System, Parkinson Disease
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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An unusual cause of stroke and hypoxia
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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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
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
NEJM 360:1729-1739, Hara,K.,et al, 2009
Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
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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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
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