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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
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Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965
Cavernous Maliformations of the Central Nervous System
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Diffusely Enhancing Lesions on MRI in DPPX Antibody-Associated Encephalitis
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
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A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
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Neurol 103:e209796, Bouchart,J.,et al, 2024
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,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
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Current and Emerging Issues in Wilsons Disease
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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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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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A 36-Year-Old Man With Asymmetric Muscle Weakness
Neurol 99"1057-1061, Harada,Y.,et al, 2022
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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A 31-Year-Old Man with Sequential Vision Loss
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A 6-Year-Old Girl with Progressive Toe Walking
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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