Retinitis Pigmentosa
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Central Core Disease, Clinical Features in 13 Patients
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Adult-Onset Spinocerebellar Syndrome with Idiopathic Vitamin E Deficiency
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Neurological Manifestations in Xeroderma Pigmentosum
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Acid Maltase Deficiency
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Gerstmann-Straussler-Scheinker Disease with Coincidental Familial Onset
Ann Neurol 14:670-678, Hudson,A.J.,et al, 1983
Clinicopathological Conference
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Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981
Abetalipoproteinemia, Report of Two Cases & Review of Therapy
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Dominant Spinopontine Atrophy
Arch Neurol 35:156, Pogacar,S.,et al, 1978
Familial Degeneration of the Basal Ganglia with Acanthocytosis:a Clinical Neuropathological, & Neurochemical Study
Ann Neurol 3:253, Bird,T.D.,et al, 1978
Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977
Cervical Myelographic Changes in Hypertrophic Interstitial Polyneuropathy
Ann Neurol 2:83, Hammerschlag,S.B.,et al, 1977
Nerve-Growth Factor in Familial Dysautonomia
NEJM 295:671, Montalcini,R.L., 1976
Charcot-Marie-Tooth Disease Associated With"Essential Tremor"
Neurol Sciences 28:17-40, Salisachs,P.J., 1976
Neurotoxicity of Commonly Used Antineoplastic Agents
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Infantile Metachromatic Leukodystrophy
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Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
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Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
A 19-Year-Old Woman with Progressive Weakness and Numbness in Her Arms and Legs
Neurol 104:e213495, Alsabah,A-A.,et al, 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
Neurol 104:e213713, Rawat,R.,et al, 2025
Abnormal and Persistent Mineralization of Globi Pallidi in GAMT Deficiency
Neurol 104:e213636, Chanda,G.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
Genes doi.org/10.3390/genesis 15060725, Zedde,M.,et al, 2024
Safety and Efficacy of Staged, Bilateral Focused Ultrasound Thalamotomy in Essential Tremor, An Open-Label Clinical Trial
JAMA Neurol 81:939-946, Kaplitt,M.G.,et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024