Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family
1996-01-01 Quattrone, A; Gambardella, A; Bono, F; Aguglia, U; Bolino, A; Bruni, Ac; Montesi, Mp; Oliveri, Rl; Sabatelli, M; Tamburrini, O; Valentino, P; Vanbroeckhoven, C; Zappia, M
ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE
1992-01-01 Baldini, A; Archidiacono, N; Carbone, R; Bolino, A; Shridhar, V; Miller, Oj; Miller, Da; Ward, Dc; Rocchi, M
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy
2001-01-01 Bolino, A; Lonie, J; Zimmer, M; Boerkoel, Cf; Takashima, H; Monaco, Ap; Lupski, Jr
A new candidate region for the positional cloning of the XLP gene
1998-01-01 Bolino, A; Yin, L; Seri, M; Cusano, R; Cinti, R; Coffey, A; Brooksbank, R; Howell, G; Bentley, D; Davis, Jr; Lanyi, A; Huang, Dl; Stark, M; Creaven, M; Bjorkhaug, L; Heitzmann, F; Lamartine, J; Gaudi, S; Sylla, Bs; Lenoir, Gm; Castagnola, E; Giacchino, R; Porta, G; Franco, B; Zollo, M; Sumegi, J; Romeo, G
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
1996-01-01 Bolino, A; Brancolini, V; Bono, F; Bruni, A; Gambardella, A; Romeo, G; Quattrone, A; Devoto, M
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases
2007-01-01 Previtali, S; Quattrini, A; Bolino, A
DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION
1993-01-01 Puliti, A; Covone, Ae; Bicocchi, Mp; Bolino, A; Lerone, M; Martucciello, G; Jasonni, V; Romeo, G
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment
1999-01-01 Seri, M; Martucciello, G; Paleari, L; Bolino, A; Priolo, M; Salemi, G; Forabosco, P; Caroli, F; Cusano, R; Tocco, T; Lerone, M; Cama, A; Torre, M; Guys, Jm; Romeo, G; Jasonni, V
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets
1993-01-01 Bolino, A; Devoto, M; Enia, G; Zoccali, C; Weissenbach, J; Romeo, G.
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
1998-01-01 Gambardella, A; Bolino, A; Muglia, M; Valentino, P; Bono, F; Oliveri, Rl; Sabatelli, M; Brancolini, V; Van Broeckhoven, C; Romeo, G; Devoto, M; Quattrone, A
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination
2009-01-01 Bolis, A; Coviello, S; Visigalli, I; Taveggia, C; Bachi, A; Chishti, Ah; Hanada, T; Quattrini, A; Previtali, Sc; Biffi, A; Bolino, A
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
2003-01-01 Azzedine, H; Bolino, A; Taieb, T; Birouk, N; Di Duca, M; Bouhouche, A; Benamou, S; Mrabet, A; Hammadouche, T; Chkili, T; Gouider, R; Ravazzolo, R; Brice, A; Laporte, J; Leguern, E
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system
2007-01-01 Bolis, A; Zordan, P; Coviello, S; Bolino, A
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
2000-01-01 Bolino, A; Muglia, M; Conforti, Fl; Leguern, E; Salih, Mam; Georgiou, Dm; Christodoulou, K; Hausmanowa-Petrusewicz, I; Mandich, P; Schenone, A; Gambardella, A; Bono, F; Quattrone, A; Devoto, M; Monaco, Ap
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22
2000-01-01 Bolino, A; Levy, Er; Muglia, M; Conforti, Fl; Leguern, E; Salih, Mam; Georgiou, Dm; Hausmanowa-Petrusewicz, I; Mandich, P; Gambardella, A; Quattrone, A; Devoto, M; Monaco, Ap
Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin
2009-01-01 Seo, Ps; Quinn, Bj; Khan, Aa; Zeng, L; Takoudis, Cg; Hanada, T; Bolis, A; Bolino, A; Chishti, Ah
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
2015-01-01 Vaccari, I; Carbone, A; Previtali, Sc; Mironova, Ya; Alberizzi, V; Noseda, R; Rivellini, C; Bianchi, F; Del Carro, U; D'Antonio, M; Lenk, Gm; Wrabetz, L; Giger, Rj; Meisler, Mh; Bolino, A
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
1998-01-01 Coffey, Aj; Brooksbank, Ra; Brandau, O; Oohashi, T; Howell, Gr; Bye, Jm; Cahn, Ap; Durham, J; Heath, P; Wray, P; Pavitt, R; Wilkinson, J; Leversha, M; Huckle, E; Shaw-Smith, Cj; Dunham, A; Rhodes, S; Schuster, V; Porta, G; Yin, L; Serafini, P; Sylla, B; Zollo, M; Franco, B; Bolino, A; Seri, M; Lanyi, A; Davis, Jr; Webster, D; Harris, A; Lenoir, G; St Basile, Gd; Jones, A; Behloradsky, Bh; Achatz, H; Murken, J; Fassler, R; Sumegi, J; Romeo, G; Vaudin, M; Ross, Mt; Meindl, A; Bentley, Dr
Frequency of RET mutations in long- and short-segment Hirschsprung disease
1997-01-01 Seri, M; Yin, L; Barone, V; Bolino, A; Celli, I; Bocciardi, R; Pasini, B; Ceccherini, I; Lerone, M; Kristoffersson, U; Larsson, Lt; Casasa, Jm; Cass, Dt; Abramowicz, Mj; Vanderwinden, Jm; Kravcenkiene, I; Baric, I; Silengo, M; Martucciello, G; Romeo, G
Photoacoustic molecular imaging for in vivo liver iron quantitation
2016-01-01 Maccarinelli, Federica; Carmona, Fernando; Regoni, Maria; Arosio, Paolo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family | 1-gen-1996 | Quattrone, A; Gambardella, A; Bono, F; Aguglia, U; Bolino, A; Bruni, Ac; Montesi, Mp; Oliveri, Rl; Sabatelli, M; Tamburrini, O; Valentino, P; Vanbroeckhoven, C; Zappia, M | |
| ISOLATION AND COMPARATIVE MAPPING OF A HUMAN-CHROMOSOME 20-SPECIFIC ALPHA-SATELLITE DNA CLONE | 1-gen-1992 | Baldini, A; Archidiacono, N; Carbone, R; Bolino, A; Shridhar, V; Miller, Oj; Miller, Da; Ward, Dc; Rocchi, M | |
| Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy | 1-gen-2001 | Bolino, A; Lonie, J; Zimmer, M; Boerkoel, Cf; Takashima, H; Monaco, Ap; Lupski, Jr | |
| A new candidate region for the positional cloning of the XLP gene | 1-gen-1998 | Bolino, A; Yin, L; Seri, M; Cusano, R; Cinti, R; Coffey, A; Brooksbank, R; Howell, G; Bentley, D; Davis, Jr; Lanyi, A; Huang, Dl; Stark, M; Creaven, M; Bjorkhaug, L; Heitzmann, F; Lamartine, J; Gaudi, S; Sylla, Bs; Lenoir, Gm; Castagnola, E; Giacchino, R; Porta, G; Franco, B; Zollo, M; Sumegi, J; Romeo, G | |
| Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing | 1-gen-1996 | Bolino, A; Brancolini, V; Bono, F; Bruni, A; Gambardella, A; Romeo, G; Quattrone, A; Devoto, M | |
| Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases | 1-gen-2007 | Previtali, S; Quattrini, A; Bolino, A | |
| DELETED AND NORMAL CHROMOSOME 10 HOMOLOGS FROM A PATIENT WITH HIRSCHSPRUNG DISEASE ISOLATED IN 2 CELL HYBRIDS THROUGH ENRICHMENT BY IMMUNOMAGNETIC SELECTION | 1-gen-1993 | Puliti, A; Covone, Ae; Bicocchi, Mp; Bolino, A; Lerone, M; Martucciello, G; Jasonni, V; Romeo, G | |
| Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment | 1-gen-1999 | Seri, M; Martucciello, G; Paleari, L; Bolino, A; Priolo, M; Salemi, G; Forabosco, P; Caroli, F; Cusano, R; Tocco, T; Lerone, M; Cama, A; Torre, M; Guys, Jm; Romeo, G; Jasonni, V | |
| Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets | 1-gen-1993 | Bolino, A; Devoto, M; Enia, G; Zoccali, C; Weissenbach, J; Romeo, G. | |
| Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) | 1-gen-1998 | Gambardella, A; Bolino, A; Muglia, M; Valentino, P; Bono, F; Oliveri, Rl; Sabatelli, M; Brancolini, V; Van Broeckhoven, C; Romeo, G; Devoto, M; Quattrone, A | |
| Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination | 1-gen-2009 | Bolis, A; Coviello, S; Visigalli, I; Taveggia, C; Bachi, A; Chishti, Ah; Hanada, T; Quattrini, A; Previtali, Sc; Biffi, A; Bolino, A | |
| Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma | 1-gen-2003 | Azzedine, H; Bolino, A; Taieb, T; Birouk, N; Di Duca, M; Bouhouche, A; Benamou, S; Mrabet, A; Hammadouche, T; Chkili, T; Gouider, R; Ravazzolo, R; Brice, A; Laporte, J; Leguern, E | |
| Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system | 1-gen-2007 | Bolis, A; Zordan, P; Coviello, S; Bolino, A | |
| Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 | 1-gen-2000 | Bolino, A; Muglia, M; Conforti, Fl; Leguern, E; Salih, Mam; Georgiou, Dm; Christodoulou, K; Hausmanowa-Petrusewicz, I; Mandich, P; Schenone, A; Gambardella, A; Bono, F; Quattrone, A; Devoto, M; Monaco, Ap | |
| Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 | 1-gen-2000 | Bolino, A; Levy, Er; Muglia, M; Conforti, Fl; Leguern, E; Salih, Mam; Georgiou, Dm; Hausmanowa-Petrusewicz, I; Mandich, P; Gambardella, A; Quattrone, A; Devoto, M; Monaco, Ap | |
| Identification of Erythrocyte p55/MPP1 as a Binding Partner of NF2 Tumor Suppressor Protein/Merlin | 1-gen-2009 | Seo, Ps; Quinn, Bj; Khan, Aa; Zeng, L; Takoudis, Cg; Hanada, T; Bolis, A; Bolino, A; Chishti, Ah | |
| Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy | 1-gen-2015 | Vaccari, I; Carbone, A; Previtali, Sc; Mironova, Ya; Alberizzi, V; Noseda, R; Rivellini, C; Bianchi, F; Del Carro, U; D'Antonio, M; Lenk, Gm; Wrabetz, L; Giger, Rj; Meisler, Mh; Bolino, A | |
| Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene | 1-gen-1998 | Coffey, Aj; Brooksbank, Ra; Brandau, O; Oohashi, T; Howell, Gr; Bye, Jm; Cahn, Ap; Durham, J; Heath, P; Wray, P; Pavitt, R; Wilkinson, J; Leversha, M; Huckle, E; Shaw-Smith, Cj; Dunham, A; Rhodes, S; Schuster, V; Porta, G; Yin, L; Serafini, P; Sylla, B; Zollo, M; Franco, B; Bolino, A; Seri, M; Lanyi, A; Davis, Jr; Webster, D; Harris, A; Lenoir, G; St Basile, Gd; Jones, A; Behloradsky, Bh; Achatz, H; Murken, J; Fassler, R; Sumegi, J; Romeo, G; Vaudin, M; Ross, Mt; Meindl, A; Bentley, Dr | |
| Frequency of RET mutations in long- and short-segment Hirschsprung disease | 1-gen-1997 | Seri, M; Yin, L; Barone, V; Bolino, A; Celli, I; Bocciardi, R; Pasini, B; Ceccherini, I; Lerone, M; Kristoffersson, U; Larsson, Lt; Casasa, Jm; Cass, Dt; Abramowicz, Mj; Vanderwinden, Jm; Kravcenkiene, I; Baric, I; Silengo, M; Martucciello, G; Romeo, G | |
| Photoacoustic molecular imaging for in vivo liver iron quantitation | 1-gen-2016 | Maccarinelli, Federica; Carmona, Fernando; Regoni, Maria; Arosio, Paolo |
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