Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A Demure Teenager and Her Dystonic Foot
Neurol 89:e71-e75, Cullinane, P.W.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Degenerative Diseases of the Nervous System, Dystonia Musculorum Deformans
Adams & Victors Principles of Neurology, Chp 39, pg 1099, Ropper, A.H.,et al, 2014
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
Dopa-Responsive Dystonia:Pathological and Biochemical Observations in a Case
Ann Neurol 35:396-402, 3811994., Rajput,A.H.,et al, 1994
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Dystonia and Tremor Induced by Peripheral Trauma:Predisposing Factors
JNNP 51:1512-1519, Jankovic,J.&VanDer Linden,C., 1988
Dystonia in Parkinson's Disease:Clinical & Pharmacological Features
Ann Neurol 23:73-78, Poewe,W.H.,et al, 1988
Dystonia in Untreated Parkinsonism
Clin Neuropharmacol 9:293-297, LeWitt,P.A.,et al, 1986
Dystonic Foot Response of Parkinsonism
Arch Neurol 37:132-136, Nausieda,P.A.,et al, 1980
A Syndrome of Early Recognition of Occult Hydrocephalus & Cerebral Atrophy
Quart J Med 183:365, Botez,M.I.,et al, 1977
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Clinicopath Conf., Chronic Inflammatory Demyelinating Polyneuropathy
NEJM 348:735-743, Case 6-2003, 2003
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Neurological Multisystem Manifestation in Multiple Symmetric Lipomatosis:A Clinical and Electrophysiological Study
Muscle & Nerve 18:693-698995., Naumann,M.,et al, 1995
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Subacute Combined Degeneration of the Spinal Cord
In Rowland's, Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8th Ed, p. 691, Mancall,E.L., 1989
Brain-Stem Auditory-Evoked Potentials in Spasmodic Torticollis
Arch Neurol 45:174-175, Drake,M.E., 1988
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Juvenile Diabetes Mellitus & Optic Atrophy
Arch Neurol 34:759, Lessell,S.,et al, 1977
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 41-Year-Old Man Presenting with Right Foot Tingling
Neurol 106:214781, Lu,V.,et al, 2026
A 55-Year-Old Man with Rapidly Progressive Weakness and Numbness
Neurol 106:e218063, Li,X.,et al, 2026
Efficacy and Safety of Sodium Oxybate in Isolated Focal Laryngeal Dystonia:A Phase IIb Double-Blind Placebo-Controlled Cross-Over Randomized Clinical Trial
Ann Neurol 97:329-343, Simonyan,K.,et al, 2025
A 68-YEar-Old Man with Progressive Numbness, Vertigo, and Cognitive Decline
Neurol 104:e213437, Regan,S.M. & Davalos,L.F., 2025
Clinicopathological Conference, Eosinophilic meningitis due to Angiostrongylus cantonensis infection
NEJM 392:699-709, Case 5-2025, 2025
Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 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
Predicting Individual Pain Sensitivity Using a Novel Cortical Biomarker Signature
JAMA Neurol 82:237-246, Chowdhury,N.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
Isolated Foot Drop, An Unusual Presentation of a Disabling NIHSS 0 Stroke
Neurologist 30:264-265, Couto,R.,et al, 2025
A 66-Year-Old Man with Chronic Orthostatic Hypotension
Neurol 105:e214294, Lenka,A. & Vernino,S, 2025
A 30-Year-Old Female Patient with Multiple Sclerosis Presenting with Rapidly Progressive Cranial Neuropathies, Weakness, and Ataxia
Neurol 105:e214429, Trentadue,T.,et al, 2025
A 50-Year-Old Male Patient With Acute Severe Sensory Deafferentation and Bilateral Ptosis with Rapid Recovery
Neurol 106:e214435, Pseruk,F.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinicopatholigic Conference, Rheumatoid Arthritis with Vasculitis Causing A Confluent Mononeuritis Multiplex
NEJM 390:1312-1322, Case 11-2024, 2024
A 61-Year-Old Man With Progressive Right Leg Numbness and Weakness
Neurol 103:e209900, Jones,F.J.S.,et al, 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
A 67-Year-Old Woman with Progressive Tingling Sensations and Imlalance
Neurol 100:151-157, Horta,L.F.B.,et al, 2023
Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Skin Lesions, Foot Drop, and Hand Contractures
JAMA doi:10.1001/JAMA.2023.9915, Filley,A.R.,et al, 2023