Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
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
Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
McGraw-Hill Book Co, NY, p1251986., Munsat,T.L., 1986
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
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
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
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Orthopedic Outcomes of Long-Term Daily Corticosteroid Treatment in Duchenne Muscular Dystrophy
Neurol 68:1607-1613, King,W.M.,et al, 2007
Polymyositis and Dermatomyositis
Lancet 362:971-982, Dalakas,M.C.&Hohlfeld,R., 2003
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
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
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Duchenne Muscular Dystrophy:Patterns of Clinical Progression and Effects of Supportive Therapy
Neurol 39:475-481, Brooke,M.H.,et al, 1989
Rigid Spine Syndrome and Rigid Spine Sign in Myopathies
J Child Neurol 4:273-282, Merlini,L.,et al, 1989
The Dandy-Walker Syndrome
In Handbk of Clin Neurology, Elsevier Publ, Amsterdam, 50:32387., Epstein,M.H.&Johanson,C.E., 1987
Subarachnoid Hemmorhage During Pregnancy and Puerperium:A Population-Based Study
Stroke 54:198-207, Korhonen,A., et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Multidisciplinary End-of-Life Care for a Patient with Amyotrophic Lateral Sclerosis Requesting Euthanasia
Lancet 402:484, Kruithof,W.J.,et al, 2023
Spina Bifida
NEJM 387:444-450, Iskandar, B.J. & Finnell, R.H., 2022
Spontaneous Subarachnoid Haemorrhage
Lancet 400:846-862, Claassen, J. & Park, S., 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Infantile and Childhood Hydrocephalus
NEJM 387:2067-2073, Whitehead,W.E.&Weiner,J.L., 2022
Natural History of "Pure" Primary Lateral Sclerosis
Neurol 96:e2231-e2238, Hassan, A.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
A 17-year-old Baseball Player with Right Hand Weakness
Neurol 92:e76-e80, Vachon, C. & Libdeh, A.A., 2019
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Pediatric HIV Infection: Classification, Clinical Manifestations, and Outcome
www.UptoDate.com, June, Gillespie, S.L., 2018
Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017
Subarachnoid Hemorrhage
NEJM 377:257-266, Lawton, M.T. & Vates, G.E., 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
Congenital Zika Virus Syndrome in Brazil: A Case Series of the first 1501 livebirths with complete investigation
Lancet 388:891-897, Franca, G.V.A.,et al, 2016
Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
, Griffiths, P.D.,et al, 2016
Magnetic Resonance Imaging of Cerebral Aspergillosis: Imaging and Pathological Correlations
PLoS ONE 11:DOI:10.1371/Journal.pone.0152474, Marzoif, G.,et al, 2016