The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011
The Clinical Spectrum of Sarcoglycanopathies
Neurol 52:176-179, Angelini,C.,et al, 1999
Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997
The Muscular Dystrophies-Clarity or Chaos
NEJM 336 650-651, Dubowitz,V., 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
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,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
Clinical Heterogeneity of Adhalin Deficiency
Ann Neurol 39:196-202, Morandi,L.,et al, 1996
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
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
Primary Adhalin Deficiency as a Cause of Muscular Dystrophy in Patients with Normal Dystrophin
Ann Neurol 38:367-372, 3531995., Ljunggren,A.,et al, 1995
Abnormal Expression of Dystrophin-Associated Proteins in Fukuyama-Type Congenital Muscular Dystrophy
Lancet 341:521-522, Matsumura,K.,et al, 1993
Duchenne Muscular Dystrophy:Deficiency of Dystrophin-Associated Proteins in the Sarcolemma
Neurol 43:795-800, Ohlendieck,K.,et al, 1993
Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
Neuroradiol 34:396-398, Aihara,M.,et al, 1992
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Mental Deficiency Associated with Muscular Dystrophy
Brain 89:769, Rosman,N.P.,et al, 1966
Neuro CPC of MGH
Myopathy, Severe, Generalized, Chronic, NEJM 258:388-3938., , 1958