Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Complete Evaluation of Dementia: PET and MRI Correlation and Diagnosis for the Neuroradiologist
AJNR 42:998-1007, Oldan, J.D.,et al, 2021
Amyotrophic lateral Sclerosis Mimic Syndromes, A Population-Based Study
Arch Neurol 57:109-113, Traynor,B.J.,et al, 2000
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997
Diagnosing Motor Neurone Disease
BMJ 312:650-651, Chancellor,A.M., 1996
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017
Mills Syndrome
Neurol 87:e54, Porto, F.H.G.,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
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 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
Polymyositis Masquerading as Motor Neuron Disease
Arch Neurol 60:1001-1003, Ryan,A.,et al, 2003
Mimic Syndromes in Sporadic Cases of Progressive Spinal Muscular Atrophy
Neurol 58:1593-1596, Visser,J.,et al, 2002
Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
Inclusiong Body Myositis Mimicking Motor Neuron Disease
Arch Neurol 58:1253-1256, Dabby,R.,et al, 2001
Toward Earlier Diagnosis of Amyotrophic Lateral Sclerosis, Revised Criteria
Neurol 50:768-772, Ross,M.A.,et al, 1998
PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
Neurol 50:760-763, Young,P.,et al, 1998
ALS Standard of Care Consensus
Neurol 48 (Suppl 4) :S33-S37997., Miller,R.G.,et al, 1997
ALS & Severe Cervical Spondylotic Myelopathy in Pt with a Posterior Fossa Archnoid Cyst:Diag Dilemma
South Medical J 80:1580-1583, Lee,S.K.&Kelly,D.L., 1997
Avoiding False Positive Diagnoses of Motor Neuron Disease:Lessons from the Scottish Motor Neuron Disease Register
JNNP 60:147-151, Davenport,R.J.,et al, 1996
Cytomegalovirus Encephalitis
Ann Int Med 125:577-578, Arribas,J.R.,et al, 1996
Amyotrophic Lateral Sclerosis:Correlation of Clinical & MR Imaging Findings
Radiology 194:263-270, Cheung,G.,et al, 1995
The Electrophysiological Study of Diff Dx Between ALS & Cervical Spondylotic Myelopathy
EMG & Clin Neurophysiology 35:231-238995., Kang,D.X.&Fan,D.S., 1995
Motor Neuron Disease
JNNP 57:886-896, Leigh,P.N.&Ray-Chaudhuri,K., 1994
Polyglucosan Body Disease Simulating Amyotrophic Lateral Sclerosis
Neurol 43:785-790, McDonald,T.D.,et al, 1993
Amyotrophic Lateral Sclerosis:T2 Shortening in Motor Cortex at MR Imaging
Radiology 189:843-846, Oba,H.,et al, 1993
Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993
Surgical Treatment of Cervical Spondylotic Myelopathy:Time for a Controlled Trial
Neurol 42:5-13, Rowland,L.P., 1992
Myelopathy Associated with Human T Cell Lymphotropic Virus Type 1 in a White European Native to England
BMJ 305:453, Ali,A.&Rudge,P., 1992
Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
A 67-YEar-Old Man with Multiple Intracranial Lesions
Neurol 101:e845-e851, Ngo,A.,et al, 2023
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
Hopkins Syndrome
Neurol 94:e996-e997, Sgobbi de Souza, P. V.,et al, 2020
Imaging Review of Paraneoplastic Neurologic Syndromes
AJNR 41:2176-2187, Madhavan, A.A.,et al, 2020
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019