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Results: 1-12 |
Results: 12
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
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
Authors: Rampoldi, L Dobson-Stone, C Rubio, JP Danek, A Chalmers, RM Wood, NW Verellen, C Ferrer, X Malandrini, A Fabrizi, GM Brown, R Vance, J Pericak-Vance, M Rudolf, G Carre, S Alonso, E Manfredi, M Nemeth, AH Monaco, AP
Citation: L. Rampoldi et al., A conserved sorting-associated protein is mutant in chorea-acanthocytosis, NAT GENET, 28(2), 2001, pp. 119-120
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:Mutation analysis in a large cohort of Italian families
Authors: Mostacciuolo, ML Righetti, E Zortea, M Bosello, V Schiavon, F Vallo, L Merlini, L Siciliano, G Fabrizi, GM Rizzuto, N Milani, M Baratta, S Taroni, F
Citation: Ml. Mostacciuolo et al., Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:Mutation analysis in a large cohort of Italian families, HUM MUTAT, 18(1), 2001, pp. 32-41
A somatic and germline mosaic mutation in MPZ/P-0 mimics recessive inheritance of CMT1B
Authors: Fabrizi, GM Ferrarini, M Cavallaro, T Jarre, L Polo, A Rizzuto, N
Citation: Gm. Fabrizi et al., A somatic and germline mosaic mutation in MPZ/P-0 mimics recessive inheritance of CMT1B, NEUROLOGY, 57(1), 2001, pp. 101-105
PMP22 related congenital hypomyelination neuropathy
Authors: Fabrizi, GM Simonati, A Taioli, F Cavallaro, T Ferrarini, M Rigatelli, F Pini, A Mostacciuolo, ML Rizzuto, N
Citation: Gm. Fabrizi et al., PMP22 related congenital hypomyelination neuropathy, J NE NE PSY, 70(1), 2001, pp. 123-126
Heteroplasmy of the A3243G transition of mitochondrial tRNA(Leu(UUR)) in aMELAS case and in a 25-week-old miscarried fetus
Authors: Cardaioli, E Fabrizi, GM Grieco, GS Dotti, MT Federico, A
Citation: E. Cardaioli et al., Heteroplasmy of the A3243G transition of mitochondrial tRNA(Leu(UUR)) in aMELAS case and in a 25-week-old miscarried fetus, J NEUROL, 247(11), 2000, pp. 885-887
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
Authors: Fabrizi, GM Taioli, F Cavallaro, T Rigatelli, F Simonati, A Mariani, G Perrone, P Rizzuto, N
Citation: Gm. Fabrizi et al., Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero, ACT NEUROP, 100(3), 2000, pp. 299-304
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
Authors: Simonati, A Fabrizi, GM Pasquinelli, A Taioli, F Cavallaro, T Morbin, M Marcon, G Papini, M Rizzuto, N
Citation: A. Simonati et al., Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22, NEUROMUSC D, 9(4), 1999, pp. 257-261
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a pointmutation of peripheral myelin protein-22
Authors: Fabrizi, GM Cavallaro, T Taioli, F Orrico, D Morbin, M Simonati, A Rizzuto, N
Citation: Gm. Fabrizi et al., Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a pointmutation of peripheral myelin protein-22, NEUROLOGY, 53(4), 1999, pp. 846-851
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family
Authors: Casali, C Fabrizi, GM Santorelli, FM Colazza, G Villanova, M Dotti, MT Cavallaro, T Cardaioli, E Battisti, C Manneschi, L DiGennaro, GC Fortini, D Spadaro, M Morocutti, C Federico, A
Citation: C. Casali et al., Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family, NEUROLOGY, 52(5), 1999, pp. 1103-1104
Novel mutation of the P-0 extracellular domain causes a Dejerine-Sottas syndrome
Authors: Fabrizi, GM Cavallaro, T Morbin, M Simonati, A Taioli, F Rizzuto, N
Citation: Gm. Fabrizi et al., Novel mutation of the P-0 extracellular domain causes a Dejerine-Sottas syndrome, J NE NE PSY, 66(3), 1999, pp. 386-389
Risultati: 1-12 |