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Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996

Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993

Phosphorylase Deficiency
In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986

McArdle's Disease in the 1980s
NEJM 312:370-371, Layzer,R.B., 1985

A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022

HIV Infection - Screening, Diagnosis, and Treatment
NEJM 384:2131-2143, Saag, M.S., 2021

Complete Evaluation of Dementia: PET and MRI Correlation and Diagnosis for the Neuroradiologist
AJNR 42:998-1007, Oldan, J.D.,et al, 2021

"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019

MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017

Validation of Clinicoradiological Criteria for the Diagnosis of Cerebral Amyloid Angiopathy-Related Inflammation
JAMA Neurol 73:197-202, Auriel, E.,et al, 2016

Safety and Diagnostic Value of Brain Biopsy in HIV patients: a Case Series and Meta-Analysis of 1209 Patients
JNNP 87:722-733, Lee, A.M.,et al, 2016

Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
Neurol 87:579-584, Berkovic, S.F.,et al, 2016

Spectrum of Imaging Appearances of Intracranial Cryptococcal Infection in HIV/AIDS Patients in the Anti-Retroviral Therapy Era
Clin Radiol 71:9-17, Offiah, C.E. & Naseer, A., 2016

Safety and Diagnostic Value of Brain Biopsy in HIV Patients: A Case Series and Meta-Analysis of 1209 Patients
JNNP 87:722-733, Lee, A.M.,et al, 2016

Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
JIEMS 4:1-5, Politeri,J.M.,et al, 2016

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015

Inflammatory Cerebral Amyloid Angiopathy, Amyloid-B-Related Angiitis, and Primary Angiitis of the Central Nervous System
Stroke 46:e210-e213, Moussaddy, A.,et al, 2015

Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015

Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014

Low Prevalence of Neurocognitive Impairment in Early Diagnosed and Managed HIV-Infected Persons
Neurol 80:371-379, Crum-Cianflone, N.,et al, 2013

Target Sign on Enhanced MR Imaging in Toxoplasmosis
Conn Med 77:343-344, Finelli, P.F. & Al Zahmi, F., 2013

Frontotemporal Dementia
BMJ 347:f4827, Warren, J.D.,et al, 2013

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
JAMA Neurol 70:1440-1444, Leen, W.G.,et al, 2013

Cerebral Amyloid Angiopathy
eMedicine, Jan, Menon, R.S., 2012

Cerebral Amyloid Angiopathy Related Inflammation: Three Case Reports and a Review
JNNP 82:20-26, Chung,K.K.,et al, 2011

Diagnosis and Management of Cerebral Venous Thrombosis: A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:1158-1192, Saposnik,G.,et al, 2011

Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011

Impact of Late Diagnosis and Treatment on Life Expectancy in People with HIV-1: UK Collaborative HIV Cohort (UK CHIC) Study
BMJ 343:d6016,d6015, May, M.,et al, 2011

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010

Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010

Cerebral Amyloid Angiopathy
UpToDate: May 2010, Greenberg,S.M.,et al, 2010

AIDS - Related Lymphomas: Primary CNS Lymphoma
UpToDate, April, Doweiko, J.P., 2010

Chronic Inflammatory Demyelinating Polyneuropathy: Etiology, Clinical Features, and Diagnosis
UpToDate, Sept, Lewis, R., 2010

Multiple Ring-Enhancing Lesions of the Brain
J Postgrad Med 56:307-316, Garg, R.K. & Sinha, M.K., 2010

Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009

Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008

Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008

Diffusion-Weighted Imaging in Brain Aspergillesis
Eur J Neurol 14:912-916, Charlot,M.,et al, 2007

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

Frontotemporal Dementia: Clinicopathological Correlations
Ann Neurol 59:952-962, Forman,M.S.,et al, 2006

Lesion Size Determines Accuracy of Thallium-201 Brain Single-Photon Emission Tomography in Differentiating Between Intracranial Malignancy and Infection in AIDS Patients
AJNR 26:1973-1979, Younhg,R.J.,et al, 2005

Clinical Features and Diagnosis of Primary Central Nervous System Lymphoma
Hematol Oncol Clin North Am 19:689-703, Fitzsimmons,A.,et al, 2005

MR Spectroscopy in the Diagnosis of Cerebral Amyloid Angiopathy Presenting as a Brain Tumor
AJNR 25:1705-1708, Safriel,Y.,et al, 2004



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