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A 40-Year-Old Woman Presenting with Distal Leg Weakness
Neurol 92:242-247, Fam, D.,et al, 2019

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

Young Adult with Dysphagia and Severe Weight Loss
Neurol 91:e1083-e1086, Irumudomon, O. & Ghosh, P.S., 2018

Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014

Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008

CMT with Pyramidal Features
Neurol 60:696-699, Vucic,S.,et al, 2003

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991

Neuromuscular Involvement in Mild, Asymptomatic Primary Hyperparathyroidism
Am J Med 87:553-557, Turken,S.A., 1989

A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023

A Young Man With Subacute Onset of Spastic Paraparesis
Neurol 100:199-205, Rossi,S.,et al, 2023

A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021

Spasms and Myoclonus in a Young Woman with Hashimoto Thyroiditis
JAMA Neurol 77:650-651, Shen, D.,et al, 2020

Leg Weakness and Stiffness at the Emergency Room
Neurol 92:e622-e625, af Edholm, K.,et al, 2019

A Middle Aged Man with Back Pain and Heavy Legs
BMJ 366:e2420, Chanchlani, N. & Reading, N.G., 2019

Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019

A 55-Year-Old Woman Presenting with Ataxia and Numbness 1 Year After Ileum Resection
Neurol 93:675-679, Cassano, V.,et al, 2019

Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018

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

A 35-year-old Woman with Hyperstartling Stiffness, and Accidental Falls
Neurol 88:e38-e41, Russo, S.P.,et al, 2017

Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017

Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
Neurol 86:e58-e59, Sgobbi de Souza, P.V.,et al, 2016

Rapid Multifocal Neurologic Decline in an Immunocompromised Patient
JAMA Neurol 73:226-231, Kromm, J.A.,et al, 2016

A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015

Clinicopathologic Conference, Primitive Neuroectodermal Tumor of CNS, with Involvement of Thalamus, Medial Cerebral Cortex, Brainstem, Cerebellum and Subarachnoid Space
NEJM 372:1550-1562, Case 12-2015, 2015

Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014

Clinicopathologic Conference, Paraneoplastic Stiff Person Syndrome with Limbic Encephalitis with Anti-Amphiphysin Antibodies with Metastatic Carcinoma of Breast
NEJM 367:851-861, Case 27-2012, 2012

GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011

Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004

SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001

Clinicopath Conf,Pulmonary Mycobacterial Infection and Transverse Myelitis
NEJM 345:1263-1269, Case 33-2001, 2001

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
Neurol 45:325-331, Fink,J.K.,et al, 1995

Combined System Disease after Nitrous Oxide Anesthesia:A Case Report
Neurol 45:1224-1225, McMorrow,A.M.,et al, 1995

X-Linked Pure Familial Spastic Paraparesis
Arch Neurol 52:665-669, Cambi,F.,et al, 1995

Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
Neurol 45:2266-2271, Schwankhaus,J.D.,et al, 1995

Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994

Primary Lateral Sclerosis, Clin Features, Neuropath & Dx Criteria
Brain 115:495-520, Pringle,C.E.,et al, 1992

Cortical-Basal Ganglionic Degeneration
Neurol 40:1203-1212, Riley,D.E.,et al, 1990

Adrenoleukodystrophy
JAMA 262:1504-1506, Ladenson,P.W., 1989

Clinicopath Conf
HTLV-I Infection, with Adult T-Cell Lymphoma and Tropical Spastic Paraparesis, Case 36-2989, NEJM 32, :6675,1989., 1989

Compression Syndromes Due to Hypertrophic Nerve Roots in Hereditary Motor Sensory Neuropathy Type I
Neurol 39:1173-1177, Rosen,S.A.,et al, 1989

Demyelinating Diseases
In Rowlands Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8th Ed, p. 749, Sibley,W.A.,et al, 1989

Chronic Progressive Spinobulbar Spasticity, A Rare Form of Primary Lateral Sclerosis
Arch Neurol 45:509-513, Gastaut,J.L.,et al, 1988

Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
NEJM 311:1649-1652, Berginer,V.M.,et al, 1984

Clinical Pathological Conference, Peripheral Neuropathy in Leprosy
NEJM 300:546-553, Dawson,D., 1979



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