| Year |
Citation |
Score |
| 2022 |
Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, ... ... Bolino A, et al. Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy. European Journal of Neurology. PMID 36260368 DOI: 10.1111/ene.15601 |
0.33 |
|
| 2021 |
Carozzi VA, Bolino A, D'Antonio M, Quattrini A, Cavaletti G. Nerve pathology in animal models of neuropathies. Journal of the Peripheral Nervous System : Jpns. PMID 34498774 DOI: 10.1111/jns.12463 |
0.328 |
|
| 2021 |
Bolino A. Myelin Biology. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. PMID 34244924 DOI: 10.1007/s13311-021-01083-w |
0.425 |
|
| 2021 |
Guerrero-Valero M, Grandi F, Cipriani S, Alberizzi V, Di Guardo R, Chicanne G, Sawade L, Bianchi F, Del Carro U, De Curtis I, Pareyson D, Parman Y, Schenone A, Haucke V, Payrastre B, ... Bolino A, et al. Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 33653949 DOI: 10.1073/pnas.2009469118 |
0.471 |
|
| 2020 |
Sawade L, Grandi F, Mignanelli M, Patiño-López G, Klinkert K, Langa-Vives F, Di Guardo R, Echard A, Bolino A, Haucke V. Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth. Nature Communications. 11: 2835. PMID 32503983 DOI: 10.1038/s41467-020-16696-6 |
0.425 |
|
| 2019 |
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, ... ... Bolino A, et al. A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs). Annals of Neurology. PMID 31070812 DOI: 10.1002/Ana.25500 |
0.342 |
|
| 2018 |
Taveggia C, Bolino A. DRG Neuron/Schwann Cells Myelinating Cocultures. Methods in Molecular Biology (Clifton, N.J.). 1791: 115-129. PMID 30006705 DOI: 10.1007/978-1-4939-7862-5_9 |
0.48 |
|
| 2017 |
Zambon AA, Natali Sora MG, Cantarella G, Cerri F, Quattrini A, Comi G, Previtali SC, Bolino A. Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature. Neuromuscular Disorders : Nmd. 27: 487-491. PMID 28190646 DOI: 10.1016/J.Nmd.2017.01.006 |
0.392 |
|
| 2016 |
Bolino A, Piguet F, Alberizzi V, Pellegatta M, Rivellini C, Guerrero-Valero M, Noseda R, Brombin C, Nonis A, D'Adamo P, Taveggia C, Previtali SC. Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. Embo Molecular Medicine. 8: 1438-1454. PMID 27799291 DOI: 10.15252/Emmm.201606349 |
0.521 |
|
| 2016 |
Noseda R, Guerrero-Valero M, Alberizzi V, Previtali SC, Sherman DL, Palmisano M, Huganir RL, Nave KA, Cuenda A, Feltri ML, Brophy PJ, Bolino A. Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold. Plos Biology. 14: e1002440. PMID 27070899 DOI: 10.1371/Journal.Pbio.1002440 |
0.485 |
|
| 2016 |
Mironova YA, Lenk GM, Lin JP, Lee SJ, Twiss JL, Vaccari I, Bolino A, Havton LA, Min SH, Abrams CS, Shrager P, Meisler MH, Giger RJ. PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms. Elife. 5. PMID 27008179 DOI: 10.7554/Elife.13023 |
0.497 |
|
| 2016 |
Mironova YA, Lenk GM, Lin J, Lee SJ, Twiss JL, Vaccari I, Bolino A, Havton LA, Min SH, Abrams CS, Shrager P, Meisler MH, Giger RJ. Author response: PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms Elife. DOI: 10.7554/Elife.13023.030 |
0.308 |
|
| 2015 |
Ricca A, Rufo N, Ungari S, Morena F, Martino S, Kulik W, Alberizzi V, Bolino A, Bianchi F, Del Carro U, Biffi A, Gritti A. Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy. Human Molecular Genetics. 24: 3372-89. PMID 25749991 DOI: 10.1093/Hmg/Ddv086 |
0.337 |
|
| 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. Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. Human Molecular Genetics. 24: 383-96. PMID 25187576 DOI: 10.1093/Hmg/Ddu451 |
0.641 |
|
| 2013 |
Noseda R, Belin S, Piguet F, Vaccari I, Scarlino S, Brambilla P, Martinelli Boneschi F, Feltri ML, Wrabetz L, Quattrini A, Feinstein E, Huganir RL, Bolino A. DDIT4/REDD1/RTP801 is a novel negative regulator of Schwann cell myelination. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 15295-305. PMID 24048858 DOI: 10.1523/Jneurosci.2408-13.2013 |
0.706 |
|
| 2012 |
Hnia K, Vaccari I, Bolino A, Laporte J. Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology. Trends in Molecular Medicine. 18: 317-27. PMID 22578719 DOI: 10.1016/J.Molmed.2012.04.004 |
0.347 |
|
| 2012 |
Rivellini C, Dina G, Porrello E, Cerri F, Scarlato M, Domi T, Ungaro D, Del Carro U, Bolino A, Quattrini A, Comi G, Previtali SC. Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies. Plos One. 7: e32059. PMID 22363796 DOI: 10.1371/Journal.Pone.0032059 |
0.459 |
|
| 2012 |
Triolo D, Dina G, Taveggia C, Vaccari I, Porrello E, Rivellini C, Domi T, La Marca R, Cerri F, Bolino A, Quattrini A, Previtali SC. Vimentin regulates peripheral nerve myelination. Development (Cambridge, England). 139: 1359-67. PMID 22357929 DOI: 10.1242/Jcs.110528 |
0.566 |
|
| 2011 |
Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. Plos Genetics. 7: e1002319. PMID 22028665 DOI: 10.1371/Journal.Pgen.1002319 |
0.706 |
|
| 2010 |
Benedetti S, Previtali SC, Coviello S, Scarlato M, Cerri F, Di Pierri E, Piantoni L, Spiga I, Fazio R, Riva N, Natali Sora MG, Dacci P, Malaguti MC, Munerati E, Grimaldi LM, ... ... Bolino A, et al. Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis. Archives of Neurology. 67: 1498-505. PMID 21149811 DOI: 10.1001/archneurol.2010.303 |
0.345 |
|
| 2010 |
Dacci P, Dina G, Cerri F, Previtali SC, Lopez ID, Lauria G, Feltri ML, Bolino A, Comi G, Wrabetz L, Quattrini A. Foot pad skin biopsy in mouse models of hereditary neuropathy. Glia. 58: 2005-16. PMID 20878767 DOI: 10.1002/Glia.21069 |
0.652 |
|
| 2009 |
Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti AH, Hanada T, Quattrini A, Previtali SC, Biffi A, Bolino A. Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 8858-70. PMID 19587293 DOI: 10.1523/JNEUROSCI.1423-09.2009 |
0.388 |
|
| 2008 |
Previtali SC, Malaguti MC, Riva N, Scarlato M, Dacci P, Dina G, Triolo D, Porrello E, Lorenzetti I, Fazio R, Comi G, Bolino A, Quattrini A. The extracellular matrix affects axonal regeneration in peripheral neuropathies. Neurology. 71: 322-31. PMID 18663178 DOI: 10.1212/01.wnl.0000319736.43628.04 |
0.35 |
|
| 2007 |
Bolis A, Zordan P, Coviello S, Bolino A. Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system. Molecular Neurobiology. 35: 308-16. PMID 17917119 DOI: 10.1007/S12035-007-0031-0 |
0.563 |
|
| 2007 |
Previtali SC, Quattrini A, Bolino A. Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. Expert Reviews in Molecular Medicine. 9: 1-16. PMID 17880751 DOI: 10.1017/S1462399407000439 |
0.498 |
|
| 2005 |
Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML, Quattrini A, Wrabetz L, Bolino A. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 25: 8567-77. PMID 16162938 DOI: 10.1523/Jneurosci.2493-05.2005 |
0.679 |
|
| 2004 |
Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk DD, Feltri ML, Cheng CY, Quattrini A, Wrabetz L. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. The Journal of Cell Biology. 167: 711-21. PMID 15557122 DOI: 10.1083/Jcb.200407010 |
0.678 |
|
| 2004 |
Bolis A, Previtali S, Bussini S, Dina G, Dati G, Feltri M, Quattrini A, Wrabetz L, Bolino A. Unravelling the molecular basis of CMT4B pathology Journal of the Peripheral Nervous System. 9: 125-125. DOI: 10.1111/J.1085-9489.2004.009209Bq.X |
0.686 |
|
| 2003 |
Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Human Molecular Genetics. 12: 1713-23. PMID 12837694 DOI: 10.1093/Hmg/Ddg179 |
0.669 |
|
| 2003 |
Azzedine H, Bolino A, Taïeb 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. 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. American Journal of Human Genetics. 72: 1141-53. PMID 12687498 DOI: 10.1086/375034 |
0.433 |
|
| 2002 |
Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP. Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. Gene. 283: 17-26. PMID 11867209 DOI: 10.1016/S0378-1119(01)00876-9 |
0.599 |
|
| 2001 |
Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. 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. Neurogenetics. 3: 107-9. PMID 11354824 DOI: 10.1007/S100480000101 |
0.481 |
|
| 2000 |
Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nature Genetics. 25: 17-9. PMID 10802647 DOI: 10.1038/75542 |
0.449 |
|
| 2000 |
Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP. Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. Genomics. 63: 271-8. PMID 10673338 DOI: 10.1006/Geno.1999.6088 |
0.4 |
|
| 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, et al. Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment. Human Genetics. 104: 108-10. PMID 10071202 DOI: 10.1007/S004390050919 |
0.304 |
|
| 1998 |
Bolino A, Seri M, Caroli F, Eubanks J, Srinivasan J, Mandich P, Schenone A, Quattrone A, Romeo G, Catterall WA, Devoto M. Exclusion of the SCN2B gene as candidate for CMT4B. European Journal of Human Genetics : Ejhg. 6: 629-34. PMID 9887383 DOI: 10.1038/Sj.Ejhg.5200220 |
0.454 |
|
| 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, ... ... Bolino A, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nature Genetics. 20: 129-35. PMID 9771704 DOI: 10.1038/2424 |
0.336 |
|
| 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. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology. 50: 799-801. PMID 9521281 DOI: 10.1212/wnl.50.3.799 |
0.367 |
|
| 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, et al. Frequency of RET mutations in long- and short-segment Hirschsprung disease. Human Mutation. 9: 243-9. PMID 9090527 DOI: 10.1002/(Sici)1098-1004(1997)9:3<243::Aid-Humu5>3.0.Co;2-8 |
0.354 |
|
| 1996 |
Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Human Molecular Genetics. 5: 1051-4. PMID 8817346 DOI: 10.1093/Hmg/5.7.1051 |
0.449 |
|
| 1996 |
Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O, Valentino P, Van Broeckhoven C, Zappia M. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology. 46: 1318-24. PMID 8628474 DOI: 10.1212/wnl.46.5.1318 |
0.358 |
|
| 1996 |
Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV. A common molecular basis for three inherited kidney stone diseases. Nature. 379: 445-9. PMID 8559248 DOI: 10.1038/379445A0 |
0.307 |
|
| 1993 |
Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard ML, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genetics. 4: 346-50. PMID 8401580 DOI: 10.1038/Ng0893-346 |
0.307 |
|
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