A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
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
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
Palliative Care and Neurology
Neurol 83:561-567, Boersma, I.,et al, 2014
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
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Diagnostic Delay in Duchenne's Muscular Dystrophy
JAMA 247:478-480, Crisp,D.E.,et al, 1982
Mechanisms, Causes, and Effects of Hypercapnia
UptoDate Dec, Feller-Kopman, D.J. & Schwartzstein, R.M., 2016
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 1996
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996
Palliative Care in Neurology
Neurol 46:870-872, 5981996., Bernat,J.L.,et al, 1996
Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996
Deficiency of Brain Synaptic Dystrophin in Human Duchenne Muscular Dystrophy
Ann Neurol 38:446-449, Kim,T.W.,et al, 1995
Brain Abnormalities in Duchenne Muscular Dystrophy:Phosphorus-31 Magnetic Resonance Spectroscopy & Neuropsych Study
Lancet 345:1260-1264, Tracey,I.,et al, 1995
Hypoglycaemia in Spinal Muscular Atrophy
Lancet 346:609-610, Bruce,A.K.,et al, 1995
Facioscapulohumeral Muscular Dystrophy in Early Childhood
Arch Neurol 51:387-394, Brouwer,O.F.,et al, 1994
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
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Practical Problems in the Respiratory Care of Patients with Muscular Dystrophy
NEJM 316:1197-1205, Smith,P.E.M.,et al, 1987
Facioscapulohumeral Dystrophy Presenting in Infancy with Facial Diplegia & Sensorineural Deafness
Ann Neurol 17:513-516, Korf,B.R.,et al, 1985
Implications of Diagnostic Delay in Duchenne Muscular Dystrophy
BMJ 287:1106-1107, Zellweger,H., 1983
Facioscapulohumeral Dystrophy Associated with Hearing Loss & Coats Syndrome
Ann Neurol 12:395-398, Taylor,D.A.,et al, 1982
Myotonic Dystrophy
In Harrison's Principles of Internal Medicine, 9th Ed, McGraw-Hill Book Co, NY 206180., Adams,R.D.,et al, 1980
Abnormal Iris Vasculature in Myotonic Dystrophy
Arch Neurol 35:224, Stern,L.Z.,et al, 1978
Mental Deficiency Associated with Muscular Dystrophy
Brain 89:769, Rosman,N.P.,et al, 1966