AAAAAA

   
Results: 1-14 |
Results: 14
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001)
Authors: Spelbrink, JN Li, FY Tiranti, V Nikali, K Yuan, QP Tariq, M Wanrooij, S Garrido, N Comi, G Morandi, L Santoro, L Toscano, A Fabrizi, GM Somer, H Croxen, R Beeson, D Poulton, J Suomalainen, A Jacobs, HT Zeviani, M Larsson, C
Citation: Jn. Spelbrink et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001), NAT GENET, 29(1), 2001, pp. 100-100
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
Authors: Spelbrink, JN Li, FY Tiranti, V Nikali, K Yuan, QP Tariq, M Wanrooij, S Garrido, N Comi, G Morandi, L Santoro, L Toscano, A Fabrizi, GM Somer, H Croxen, R Beeson, D Poulton, L Suomalainen, A Jacobs, HT Zeviani, M Larsson, C
Citation: Jn. Spelbrink et al., Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria, NAT GENET, 28(3), 2001, pp. 223-231
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
Authors: Gellera, C Castellotti, B Riggio, MC Silani, V Morandi, L Testa, D Casali, C Taroni, F Di Donato, S Zeviani, M Mariotti, C
Citation: C. Gellera et al., Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations, NEUROMUSC D, 11(4), 2001, pp. 404-410
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping
Authors: Di Blasi, C He, Y Morandi, L Cornelio, F Guicheney, P Mora, M
Citation: C. Di Blasi et al., Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping, BRAIN, 124, 2001, pp. 698-704
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
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy
Authors: Di Blasi, C Morandi, L di Barletta, MR Bione, S Bernasconi, P Cerletti, M Bono, R Blasevich, F Toniolo, D Mora, M
Citation: C. Di Blasi et al., Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy, NEUROMUSC D, 10(8), 2000, pp. 567-571
Partial laminin alpha 2 chain deficiency in a patient with myopathy resembling inclusion body myositis
Authors: Di Blasi, C Mora, M Pareyson, D Farina, L Sghirlanzoni, A Vignier, N Blasevich, F Cornelio, F Guicheney, P Morandi, L
Citation: C. Di Blasi et al., Partial laminin alpha 2 chain deficiency in a patient with myopathy resembling inclusion body myositis, ANN NEUROL, 47(6), 2000, pp. 811-816
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations
Authors: Barresi, R Di Blasi, C Negri, T Brugnoni, R Vitali, A Felisari, G Salandi, A Daniel, S Cornelio, F Morandi, L Mora, M
Citation: R. Barresi et al., Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations, J MED GENET, 37(2), 2000, pp. 102-107
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
Authors: di Barletta, MR Ricci, E Galluzzi, G Tonali, P Mora, M Morandi, L Romorini, A Voit, T Orstavik, KH Merlini, L Trevisan, C Biancalana, V Housmanowa-Petrusewicz, I Bione, S Ricotti, R Schwartz, K Bonne, G Toniolo, D
Citation: Mr. Di Barletta et al., Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy, AM J HU GEN, 66(4), 2000, pp. 1407-1412
Transforming growth factor-beta 1 and fibrosis in congenital muscular dystrophies
Authors: Bernasconi, P Di Blasi, C Mora, M Morandi, L Galbiati, S Confalonieri, P Cornelio, F Mantegazza, R
Citation: P. Bernasconi et al., Transforming growth factor-beta 1 and fibrosis in congenital muscular dystrophies, NEUROMUSC D, 9(1), 1999, pp. 28-33
Detection of Helicobacter pylori cagA gene by polymerase chain reaction infaecal samples
Authors: Russo, F Notarnicola, M Di Matteo, G Leoci, C Caruso, ML Pirrelli, M Caradonna, M Morandi, L Di Leo, A
Citation: F. Russo et al., Detection of Helicobacter pylori cagA gene by polymerase chain reaction infaecal samples, EUR J GASTR, 11(3), 1999, pp. 251-256
Clinical correlations in 16 patients with total or partial laminin alpha 2deficiency characterized using antibodies against 2 fragments of the protein
Authors: Morandi, L Di Blasi, C Farina, L Sorokin, L Uziel, G Azan, G Pini, A Toscano, A Lanfossi, M Galbiati, S Cornelio, F Mora, M
Citation: L. Morandi et al., Clinical correlations in 16 patients with total or partial laminin alpha 2deficiency characterized using antibodies against 2 fragments of the protein, ARCH NEUROL, 56(2), 1999, pp. 209-215
Development of muscle pathology in canine X-linked muscular dystrophy. I. Delayed postnatal maturation of affected and normal muscle as revealed by myosin isoform analysis and utrophin expression
Authors: Lanfossi, M Cozzi, F Bugini, D Colombo, S Scarpa, P Morandi, L Galbiati, S Cornelio, F Pozza, O Mora, M
Citation: M. Lanfossi et al., Development of muscle pathology in canine X-linked muscular dystrophy. I. Delayed postnatal maturation of affected and normal muscle as revealed by myosin isoform analysis and utrophin expression, ACT NEUROP, 97(2), 1999, pp. 127-138
Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients
Authors: Farina, L Morandi, L Milanesi, I Ciceri, E Mora, M Moroni, I Pantaleoni, C Savoiardo, M
Citation: L. Farina et al., Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients, NEURORADIOL, 40(12), 1998, pp. 807-811
Risultati: 1-14 |