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Quadriceps Myopathy:Forme Fruste of Becker Muscular Dystrophy
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Improved Diagnosis of Becker Muscular Dystrophy by Dystrophin Testing
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Telemedicine in Neurology
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"Boule Du Biceps" in Dysferlinopathy
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A 30-year-old Man with Progressive Weakness and Atrophy
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Mechanisms, Causes, and Effects of Hypercapnia
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A 52-year-old Woman with Progressive Proximal Weakness
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The Limbic-Girdle Muscular Dystrophies
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Myoglobinuria and Muscle Pain are Common in Patients With Limb-Girdle Muscular Dystrophy 21
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LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
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Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Congenital Muscular Dystrophy
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Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
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Case 35-2006: A Newborn Boy with Hypotonia
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
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A Novel, Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy
Ann Neurol 51:129-133, Ho,M.,et al, 2002
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Clinical and Genetic Aspects of Distal Myopathies
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Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001
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
GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
Neurol 54:608-614, Mirabella,M.,et al, 2000
New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
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The Clinical Spectrum of Sarcoglycanopathies
Neurol 52:176-179, Angelini,C.,et al, 1999
Signs and Symptoms of Duchenne Muscular Dystrophny and Becker Muscular Dystrophy Among Carriers in the Netherlands: A Cohort Study
Lancet 353:2116-2119, Hoogerwaard,E.M.,et al, 1999
Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
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The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
Mutations in the Sarcoglycan Genes in Patients with Myopathy
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The Muscular Dystrophies-Clarity or Chaos
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Obstetric Aspects in Women with FSH Muscular Dystrophy, Limb-Girdle Musc Dyst, & Cogen Myopathies
Arch Neurol 54:888-894, Rudnik-Schoneborn,S.,et al, 1997
Primary Adhalinopathy (x-Sarcoglycanopathy) :Clin, Path & Genetic Correl in 20 Pts with Autosomal Recessive Muscular Dystrophy
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