Amyloid Myopathy Presenting with Distal Atrophic Weakness
Muscle Nerve 29:605-609, Smestad, C.,et al, 2004
Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004
Case Report: Recurrent Temporalis Muscle Swelling and Headache
Neurol 60:724-725, McGuigan,C.,et al, 2003
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
Diagnosis of X-Linked Myotubular Myopathy by Detection of Myotubularin
Ann Neurol 50:42-46, Laporte,J.,et al, 2001
Nemaline Myopathy:A Clinical Study of 143 Cases
Ann Neurol 50:312-320, Ryan,M.M.,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
MR Imaging of the Cauda Equina in Hereditary Motor Sensory Neuropathies: Correlations with Sural Nerve Biopsy
AJNR 21:1793-1798,1779, Cellerini,M.,et al, 2000
Medical Complications in Long-Term Survivors with X-Linked Myotubular Myopathy
J Pediatr 134:206-214, Herman,G.E.,et al,, 1999
Compression of Spinal Cord and Cauda Equina in Charcot-Marie-Tooth Disease Type 1A
Neurol 52:890-891, Butefisch,C.,et al, 1999
Phenotypic Variability in Rippling Muscle Disease
Neurol 52:1453-1459, Vorgerd,M.,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
Adult-Onset Nemaline Myopathy:Another Cause of Dropped Head
Muscle & Nerve 22:1146-1150, Lomen-Hoerth,C.,et al, 1999
Hypertrophy of Multiple Cranial Nerves and Spinal Roots in Chronic Inflammatory Demyelinating Neuropathy
JNNP 67:685-687, Duarte,J.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Post-Traumatic Shoulder 'Dystonia':Persistent Abnormal Postures of the Shoulder After Minor Trauma
Neurol 51:1205-1207, Thyagarajan,D.,et al, 1998
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
Radiology 206:811-816, Lamer,S.,et al, 1998
Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 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
Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
Ann Neurol 40:782-791, Pegoraro,E.,et al, 1996
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Erroneous Diagnosis Corrected After 28 Years
Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996
Neurogenic Muscle Hypertrophy
Muscle & Nerve 19:811-818996., Gutmann,L., 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
Acute Focal Neuropathy in Male Weight Lifters
Muscle & Nerve 19:897-899996., Bird,S.J.&Brown,M.J., 1996
Syringomyelia as a Cause of Body Hypertrophy
Lancet 347:1593-1595, Sudo,K.,et al, 1996
Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996
Clinical Heterogeneity of Adhalin Deficiency
Ann Neurol 39:196-202, Morandi,L.,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
Kobberling-Dunnigan Syndrome:A Rare Cause of Generalized Muscular Hypertrophy
Muscle & Nerve 19:843-847996., Wildermuth,S.,et al, 1996
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
Arch Pediatr Adolesc Med 149:764-768, Miller,G.,et al, 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Predictive Value of Clin Hx & EKG in Pts with TIA or Minor Stroke for Sub Cardiac & Cerebral Ischemic Events
Arch Neurol 51:333-341, Pop,G.A.M.,et al, 1994
Congenital Myopathies
Muscle & Nerve 17:131-144994., Bodensteiner,J.B., 1994
Early-Onset Respiratory Failure Caused by Severe Congenital Neuromuscular Disease
J Pediatr 124:636-638, Sandler,D.L.,et al, 1994
Congenital Myasthenic Syndromes
In:Neurologic Clinics, 12:401-4371994., Engel,A.G., 1994
Facioscapulohumeral Muscular Dystrophy in Early Childhood
Arch Neurol 51:387-394, Brouwer,O.F.,et al, 1994
Psychogenic Myoclonus
Neurol 43:349-352, Monday,K.&Jankovic,J., 1993
Klippel-Feil Syndrome:CT and MR of Acquired & Congen Abnormal of Cervical Spine & Cord
J Comput Assist Tomogr 17:215-244, Ulmer,J.L.,et al, 1993
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
NEJM 327:1100, Minetti,C.&Bonilla,E., 1992
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992
Transsection of the Spinal Cord Associated with Breech Delivery
Am J Dis Child 146:351-352, DiMario,F.J.&Wood,B.P., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992