Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Multidisciplinary End-of-Life Care for a Patient with Amyotrophic Lateral Sclerosis Requesting Euthanasia
Lancet 402:484, Kruithof,W.J.,et al, 2023
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Natural History of "Pure" Primary Lateral Sclerosis
Neurol 96:e2231-e2238, Hassan, A.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 17-year-old Baseball Player with Right Hand Weakness
Neurol 92:e76-e80, Vachon, C. & Libdeh, A.A., 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Long-term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study
Lancet 391:451-461, McDonald, C.M.,et al, 2018
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Ischemic-Hypoxic Encephalopathy
Adams & Victors Principles of Neurology Chp 40, pg 1133, Ropper, A.H.,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
Degenerative Diseases of the Nervous System, Progressive Muscle Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1111, 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
Electrophysiological Study with Prophylactic Pacing and Survival in Adults with Myotonic Dystrophy and Conduction System Disease
JAMA 307:1292-1301, Wahbi,K.,et al, 2012
Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
Neurol 77:62-66, Schade van Westrum, S.M.,et al, 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Practice Parameter Update: The Care of the Patient with Amyotrophic Lateral Sclerosis: Drug, Nutritional, and Respiratory Therapies (An Evidence-Based Review)
Neurol 73:1218-1226, Miller,R.G.,et al, 2009
Diagnosis and Management of Motor Neurone Disease
BMJ 336:658-662, McDermott,C.J. &Shaw,P.J., 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Orthopedic Outcomes of Long-Term Daily Corticosteroid Treatment in Duchenne Muscular Dystrophy
Neurol 68:1607-1613, King,W.M.,et al, 2007
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Prognosis in Amyotrophic Lateral Sclerosis
Neurol 60:813-819, del Aguila,M.A.,et al, 2003
Polymyositis and Dermatomyositis
Lancet 362:971-982, Dalakas,M.C.&Hohlfeld,R., 2003
Early Symptom Progression Rate is Related to ALS Outcome
Neurol 59:99-103, Chio,A.,et al, 2002
Hospitalization in Amyotrophic Lateral Sclerosis, Causes, Costs, and Outcomes
Neurol 56:753-757, Lechtzin,N.,et al, 2001
Reversible ALS-Like Disorder in HIV Infection
Neurol 57:995-1001,945, Moulignier,A.,et al, 2001
A 10-Year Study of Mortality in a Cohort of Patients with Myotonic Dystrophy
Neurol 52:1658-1662, Mathieu,J.,et al, 1999
Age and Cause of Death in Mitochondrial Diseases
Neurol 53:855-857, Klopstock,T.,et al, 1999
An Analysis of Extended Survival in Patients with Amyotrophic Lateral Sclerosis Treated with Riluzole
Arch Neurol 55:526-528, Riviere,M.,et al, 1998
Attitudes of Patients with Amyotrophic Lateral Sclerosis and Their Care Givers Toward Assisted Suicide
NEJM 339:967-973,987, Ganzini,L.,et al, 1998
Prognosis in Familial ALS:Progr & Surv in Pts with glu100gly & ala4val Mutations in Cu, Zn Superoxide Dismutase
Neurol 48:55-57, Juneja,T.,et al, 1997
Primary Adhalinopathy (x-Sarcoglycanopathy) :Clin, Path & Genetic Correl in 20 Pts with Autosomal Recessive Muscular Dystrophy
Neurol 48:1227-1234, Eymard,B.,et al, 1997
Familial Nature and Continuing Morbidity of the Amyotrophic Lateral Sclerosis-Parkinsonism Dementia Complex of Guam
Neurol 49:400-409, McGeer,P.L.,et al, 1997
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Motor Neuron Disease Presenting as Acute Respiratory Failure:A Clinical and Pathological Study
JNNP 60:455-458, Chen,R.,et al, 1996
Needle Electromyography in the Thoracic Paraspinal Muscles of Motor Neuron Disease
No to Shinkei-Brain & Nerve 48:637-642996., Kyuno,K.,et al, 1996
Amyotrophic Lateral Sclerosis:Correlation of Clinical & MR Imaging Findings
Radiology 194:263-270, Cheung,G.,et al, 1995
Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995
Motor Neuron Disease
JNNP 57:886-896, Leigh,P.N.&Ray-Chaudhuri,K., 1994