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Results: 1-25 | 26-28
Results: 1-25/28
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy
Authors: Mercuri, E Rutherford, M De Vile, C Counsell, S Sewry, C Brown, S Bydder, G Dubowitz, V Muntoni, F
Citation: E. Mercuri et al., Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy, NEUROMUSC D, 11(3), 2001, pp. 297-299
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene
Authors: Jungbluth, H Sewry, CA Brown, SC Nowak, KJ Laing, NG Wallgren-Pettersson, C Pelin, K Manzur, AY Mercuri, E Dubowitz, V Muntoni, F
Citation: H. Jungbluth et al., Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene, NEUROMUSC D, 11(1), 2001, pp. 35-40
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
Authors: Pogue, R Anderson, LVB Pyle, A Sewry, C Pollitt, C Johnson, MA Davison, K Moss, JA Mercuri, E Muntoni, F Bushby, KMD
Citation: R. Pogue et al., Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies, NEUROMUSC D, 11(1), 2001, pp. 80-87
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
Authors: Sewry, CA Brown, SC Mercuri, E Bonne, G Feng, L Camici, G Morris, GE Muntoni, F
Citation: Ca. Sewry et al., Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations, NEUROP AP N, 27(4), 2001, pp. 281-290
Prothrombotic disorders and abnormal neurodevelopmental outcome in infantswith neonatal cerebral infarction
Authors: Mercuri, E Cowan, F Gupte, G Manning, R Laffan, M Rutherford, M Edwards, AD Dubowitz, L Roberts, I
Citation: E. Mercuri et al., Prothrombotic disorders and abnormal neurodevelopmental outcome in infantswith neonatal cerebral infarction, PEDIATRICS, 107(6), 2001, pp. 1400-1404
Combined use of electroencephalogram and magnetic resonance imaging in full-term neonates with acute encephalopathy
Authors: Biagioni, E Mercuri, E Rutherford, M Cowan, F Azzopardi, D Frisone, MF Cioni, G Dubowitz, L
Citation: E. Biagioni et al., Combined use of electroencephalogram and magnetic resonance imaging in full-term neonates with acute encephalopathy, PEDIATRICS, 107(3), 2001, pp. 461-468
Neurologic examination in infants with hypoxic-ischemic encephalopathy at age 9 to 14 months: Use of optimality scores and correlation with magnetic resonance imaging findings
Authors: Haataja, L Mercuri, E Guzzetta, A Rutherford, M Counsell, S Frisone, MF Cioni, G Cowan, F Dubowitz, L
Citation: L. Haataja et al., Neurologic examination in infants with hypoxic-ischemic encephalopathy at age 9 to 14 months: Use of optimality scores and correlation with magnetic resonance imaging findings, J PEDIAT, 138(3), 2001, pp. 332-337
Visual function in children with hemiplegia in the first years of life
Authors: Guzzetta, A Fazzi, B Mercuri, E Bertuccelli, B Canapicchi, R van Hof-van Duin, J Cioni, G
Citation: A. Guzzetta et al., Visual function in children with hemiplegia in the first years of life, DEVELOP MED, 43(5), 2001, pp. 321-329
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan
Authors: Brockington, M Blake, DJ Prandini, P Brown, SC Torelli, S Benson, MA Ponting, CP Estournet, B Romero, NB Mercuri, E Voit, T Sewry, CA Guicheney, P Muntoni, F
Citation: M. Brockington et al., Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan, AM J HU GEN, 69(6), 2001, pp. 1198-1209
Occipital sawtooth: a physiological EEG pattern in very premature infants
Authors: Biagioni, E Frisone, MF Laroche, S Rutherford, M Counsell, S Cioni, G Azzopardi, D Mercuri, E Cowan, F
Citation: E. Biagioni et al., Occipital sawtooth: a physiological EEG pattern in very premature infants, CLIN NEU, 111(12), 2000, pp. 2145-2149
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome
Authors: Villanova, M Mercuri, E Bertini, E Sabatelli, P Morandi, L Mora, M Sewry, C Brockington, M Brown, SC Ferreiro, A Maraldi, NM Toda, T Guicheney, P Merlini, L Muntoni, F
Citation: M. Villanova et al., Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome, NEUROMUSC D, 10(8), 2000, pp. 541-547
Minicore myopathy in children: a clinical and histopathological study of 19 cases
Authors: Jungbluth, H Sewry, C Brown, SC Manzur, AY Mercuri, E Bushby, K Rowe, P Johnson, MA Hughes, I Kelsey, A Dubowitz, V Muntoni, F
Citation: H. Jungbluth et al., Minicore myopathy in children: a clinical and histopathological study of 19 cases, NEUROMUSC D, 10(4-5), 2000, pp. 264-273
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Authors: Bonne, G Mercuri, E Muchir, A Urtizberea, A Becane, HM Recan, D Merlini, L Wehnert, M Boor, R Reuner, U Vorgerd, M Wicklein, EM Eymard, B Duboc, D Penisson-Besnier, I Cuisset, JM Ferrer, X Desguerre, I Lacombe, D Bushby, K Pollitt, C Toniolo, D Fardeau, M Schwartz, K Muntoni, F
Citation: G. Bonne et al., Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, ANN NEUROL, 48(2), 2000, pp. 170-180
Neonatal neurological testing in resource-poor settings
Authors: McGready, R Simpson, J Panyavudhikrai, S Loo, S Mercuri, E Haataja, L Kolatat, T Nosten, F Dubowitz, L
Citation: R. Mcgready et al., Neonatal neurological testing in resource-poor settings, ANN TROP PA, 20(4), 2000, pp. 323-336
Congenital muscular dystrophy with secondary merosin deficiency and normalbrain MRI: A novel entity?
Authors: Mercuri, E Sewry, CA Brown, SC Brockington, M Jungbluth, H DeVile, C Counsell, S Manzur, A Muntoni, F
Citation: E. Mercuri et al., Congenital muscular dystrophy with secondary merosin deficiency and normalbrain MRI: A novel entity?, NEUROPEDIAT, 31(4), 2000, pp. 186-189
Periodic lateralized epileptiform discharges (PLEDs) as early indicator ofstroke in full-term newborns
Authors: Rando, T Ricci, D Mercuri, E Frisone, MF Luciano, R Tortorolo, G Guzzetta, F
Citation: T. Rando et al., Periodic lateralized epileptiform discharges (PLEDs) as early indicator ofstroke in full-term newborns, NEUROPEDIAT, 31(4), 2000, pp. 202-205
Timing and etiology of neonatal cerebral infarction - Reply
Authors: Mercuri, E Rutherford, M Cowan, F Pennock, J Counsell, S Papadimitriou, M Azzopardi, D Bydder, G Dubowitz, L
Citation: E. Mercuri et al., Timing and etiology of neonatal cerebral infarction - Reply, PEDIATRICS, 106(3), 2000, pp. 615-616
Head growth in infants with hypoxic-ischemic encephalopathy: Correlation with neonatal magnetic resonance imaging
Authors: Mercuri, E Ricci, D Cowan, FM Lessing, D Frisone, MF Haataja, L Counsell, SJ Dubowitz, LM Rutherford, MA
Citation: E. Mercuri et al., Head growth in infants with hypoxic-ischemic encephalopathy: Correlation with neonatal magnetic resonance imaging, PEDIATRICS, 106(2), 2000, pp. 235-243
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)
Authors: Mercuri, E Manzur, AY Jungbluth, H Bonne, G Muchir, A Sewry, C Schwartz, K Muntoni, F
Citation: E. Mercuri et al., Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2), NEUROLOGY, 54(8), 2000, pp. 1704-1705
Cranial ultrasound abnormalities in full term infants in a postnatal ward:outcome at 12 and 18 months
Authors: Haataja, L Mercuri, E Cowan, F Dubowitz, L
Citation: L. Haataja et al., Cranial ultrasound abnormalities in full term infants in a postnatal ward:outcome at 12 and 18 months, ARCH DIS CH, 82(2), 2000, pp. F128-F133
Correlation between visual function, neurodevelopmental outcome, and magnetic resonance imaging findings in infants with periventricular leucomalacia
Authors: Cioni, G Bertuccelli, B Boldrini, A Canapicchi, R Fazzi, B Guzzetta, A Mercuri, E
Citation: G. Cioni et al., Correlation between visual function, neurodevelopmental outcome, and magnetic resonance imaging findings in infants with periventricular leucomalacia, ARCH DIS CH, 82(2), 2000, pp. F134-F140
Neonatal neurological examination in infants with hypoxic ischaemic encephalopathy: Correlation with MRI findings
Authors: Mercuri, E Guzzetta, A Haataja, L Cowan, F Rutherford, M Counsell, S Papadimitriou, M Cioni, C Dubowitz, L
Citation: E. Mercuri et al., Neonatal neurological examination in infants with hypoxic ischaemic encephalopathy: Correlation with MRI findings, NEUROPEDIAT, 30(2), 1999, pp. 83-89
Congenital hemiplegia in children at school age: Assessment of hand function in the non-hemiplegic hand and correlation with MRI
Authors: Mercuri, E Jongmans, M Bouza, H Haataja, L Rutherford, M Henderson, S Dubowitz, L
Citation: E. Mercuri et al., Congenital hemiplegia in children at school age: Assessment of hand function in the non-hemiplegic hand and correlation with MRI, NEUROPEDIAT, 30(1), 1999, pp. 8-13
Early prognostic indicators of outcome in infants with neonatal cerebral infarction: A clinical, electroencephalogram, and magnetic resonance imagingstudy
Authors: Mercuri, E Rutherford, M Cowan, F Pennock, J Counsell, S Papadimitriou, M Azzopardi, D Bydder, G Dubowitz, L
Citation: E. Mercuri et al., Early prognostic indicators of outcome in infants with neonatal cerebral infarction: A clinical, electroencephalogram, and magnetic resonance imagingstudy, PEDIATRICS, 103(1), 1999, pp. 39-46
Optimality score for the neurologic examination of he infant at 12 and 18 months of age
Authors: Haataja, L Mercuri, E Regev, R Cowan, F Rutherford, M Dubowitz, V Dubowitz, L
Citation: L. Haataja et al., Optimality score for the neurologic examination of he infant at 12 and 18 months of age, J PEDIAT, 135(2), 1999, pp. 153-161
Risultati: 1-25 | 26-28