Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
Distal Hereditary Upper Limb Muscular Atrophy
JNNP 64:217-220, Gross,D.W.,et al, 1998
Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Superoxide Dismutase and ALS
Lancet 344:1651-1652, Orrell,R.W.&deBelleroche,J.S., 1994
Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 1992
Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992
Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
NEJM 324:1381-1384, 1430-14321991., Siddique,T.,et al, 1991
Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
Neurol 40:1831-1836, Munsat,T.L.,et al, 1990
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
Neurol 37:446-450, Larsen,R.,et al, 1987
Location of the Gene for X-Linked Spinal Muscular Atrophy
Neurol 36:1595-1598, Fischbeck,K.H.,et al, 1986
Benign Familial Spinal Muscular Atrophy With Hypertrophy of the Calves
Arch Neurol 39:657-660, D'Alessandro,R.,et al, 1982
Progressive Pontobulbar Palsy With Deafness
Arch Neurol 38:186-190, Brucher,J.M.,et al, 1981
Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Diagnostic and Prognostic Value of Conventional Brain MRI in the Clinical Work-Up of Patients with Amyotrophic Lateral Sclerosis
J Clin Med 9:1-12, Rizzo, G.,et al, 2020
"Motor Band Sign" in Susceptibility-Weighted Imaging in Motor Neuron Disease
Ann India Acad Neurol 23:821-822, Prabhu,A.N., 2020
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Palatal tremor as a presenting symptom of amyotrophic lateral sclerosis
Neurol 90:801-802, Maghzi, A.,et al, 2018
Young Adult with Dysphagia and Severe Weight Loss
Neurol 91:e1083-e1086, Irumudomon, O. & Ghosh, P.S., 2018
Powassan Virus-A New Reemerging Tick-Borne Disease
Front Public Health 5:342, Fatmi,S.S., et al, 2017
Acute Flaccid Myelitis; A Clinical Review of US Cases 2012-2015
Ann Neurol 80:326-338, Messacar, K.,et al, 2016
Degenerative Diseases of the Nervous System, Progressive Bulbar Palsy
Adams & Victors Principles of Neurology, Chp 39, pg 1111, Ropper, A.H.,et al, 2014
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Clinicopath Conf., Multifocal Motor Neuropathy With Conduction Block
NEJM 357: 2707-2715, Case 40-2007, 2007
West Nile Virus: A Case Report with Flaccid Paralysis and Cervical Spinal Cord MR Imaging Findings
AJNR 26:26-29, Kraushaar, G., et al, 2005
Clinicopath Conf,Encephalomyelitis Due to West Nile Virus and CLL, Case 22-2005
NEJM 353:287-295, Hollande,H.,et al, 2005
Asymmetric Flaccid Paralysis: A Neuromuscular Presentation of West Nile Virus Infection
Ann Neurol 53:703-710,691, Li,J.,et al, 2003
Polymyositis Masquerading as Motor Neuron Disease
Arch Neurol 60:1001-1003, Ryan,A.,et al, 2003
Multiple Sclerosis Presenting as Lower Motor Neuron Wasting and Weakness of the Distal Upper Extremity
Neurol 61:1303-1304, Chong,P.S.T.,et al, 2003
Nonpoliovirus Poliomyelitis Simulating Guillain-Barre Syndrome
Arch Neurol 58:1460-1464, Gorson,K.C.&Ropper,A.H., 2001
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Clinicopath Conf:Lymphoplasmocytic Lymphoma with Motor Neuronopathy,Waldenstrom's Macroglobulinemia
NEJM 340:1661-1669, , 1999
MR Findings of Werdnig-Hoffmann Disease in Two Infants
AJNR 19:550-552, Hsu,C.,et al, 1998
Estimation of Brainstem Neuronal Loss in ALS with in Vivo Proton Magnetic Resonance Spectroscopy
Neurol 50:72-77, Cwik,V.A.,et al, 1998
Lymphoproliferative Disorders and Motor Neuron Disease:An Update
Neurol 48:1671-1678, Gordon,P.H.,et al, 1997
Spinal Pseudoathetosis:A Rare, Forgotten Syndrome, With a Review of Old and Recent Descriptions
Neurol 49:432-437, Ghika,J.&Bogousslavsky,J., 1997