G
Giuseppe Lauria
Researcher at University of Milan
Publications - 290
Citations - 17712
Giuseppe Lauria is an academic researcher from University of Milan. The author has contributed to research in topics: Peripheral neuropathy & Diabetic neuropathy. The author has an hindex of 63, co-authored 268 publications receiving 14847 citations. Previous affiliations of Giuseppe Lauria include Carlo Besta Neurological Institute & University of Ferrara.
Papers
More filters
Journal ArticleDOI
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Bradley N. Smith,Nicola Ticozzi,Claudia Fallini,Athina Soragia Gkazi,Simon Topp,Kevin P. Kenna,Emma L. Scotter,Jason E. Kost,Pamela Keagle,Jack W. Miller,Daniela Calini,Caroline Vance,Eric Danielson,Claire Troakes,Cinzia Tiloca,Safa Al-Sarraj,Elizabeth A. Lewis,Andrew T. King,Claudia Colombrita,Viviana Pensato,Barbara Castellotti,J. de Belleroche,Frank Baas,A. L. M. A. ten Asbroek,Peter C. Sapp,Diane McKenna-Yasek,Russell L. McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban-Pérez,José Luis Muñoz-Blanco,Michael A. Simpson,W van Rheenen,Frank P. Diekstra,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Gianni Sorarù,Karen E. Morrison,Kelly L. Williams,Garth A. Nicholson,Ian P. Blair,Patrick A. Dion,Claire S. Leblond,Guy A. Rouleau,Orla Hardiman,Jan H. Veldink,L. H. van den Berg,Ammar Al-Chalabi,Hardev Pall,Pamela J. Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Alberto García-Redondo,Zheyang Wu,Jonathan D. Glass,C. Gellera,Antonia Ratti,Robert H. Brown,Vincenzo Silani,Christopher Shaw,John Landers +64 more
TL;DR: In this paper, an exome-wide rare variant burden analysis of 363 index cases with familial ALS (FALS) was performed and the results revealed an excess of patient variants within TUBA4A, the gene encoding the Tubulin, Alpha 4A protein.
Journal ArticleDOI
Erythropoietin both protects from and reverses experimental diabetic neuropathy.
Roberto Bianchi,Belgin Buyukakilli,Michael Brines,Costanza Savino,Guido Cavaletti,Norberto Oggioni,Giuseppe Lauria,M Borgna,Raffaella Lombardi,Burak Çimen,Ulku Comelekoglu,Arzu Kanik,Cengiz Tataroglu,Anthony Cerami,Pietro Ghezzi +14 more
TL;DR: Assessment of the efficacy of recombinant human EPO in preventing and reversing nerve dysfunction in streptozotocin-induced diabetes in rats suggests that administration of rhEPO or its analogues may be useful in the treatment of diabetic neuropathy.
Journal ArticleDOI
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.
Jianying Huang,Chongyang Han,Mark Estacion,Dymtro Vasylyev,Janneke G. J. Hoeijmakers,Monique M. Gerrits,Lynda Tyrrell,Giuseppe Lauria,Catharina G. Faber,Sulayman D. Dib-Hajj,Ingemar S. J. Merkies,Stephen G. Waxman +11 more
TL;DR: The data show, for the first time, missense mutations of Nav1.9 in individuals with painful peripheral neuropathy, which confer gain-of-function attributes to the channel, depolarize resting membrane potential of dorsal root ganglion neurons, enhance spontaneous firing, and increase evoked firing of these neurons.
Journal ArticleDOI
Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation
John D. England,John D. England,Gary S. Gronseth,Gary M. Franklin,Gregory T. Carter,Laurence J. Kinsella,Jeffrey A. Cohen,Arthur K. Asbury,Kinga Szigeti,James R. Lupski,Norman Latov,Richard A. Lewis,Pa Low,Morris A. Fisher,David N. Herrmann,Jr Jf Howard,Giuseppe Lauria,Robert G. Miller,Michael Polydefkis,Austin J. Sumner +19 more
TL;DR: Initial genetic testing should be guided by the clinical phenotype, inheritance pattern, and electrodiagnostic features and should focus on the most common abnormalities which are CMT1A duplication/HNPP deletion, Cx32 (GJB1), and MFN2 mutation screening.
Journal ArticleDOI
A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.
Harshvardhan Rolyan,Shujun Liu,Janneke G. J. Hoeijmakers,Catharina G. Faber,Ingemar S. J. Merkies,Giuseppe Lauria,Joel A. Black,Stephen G. Waxman +7 more
TL;DR: The present results link energetic stress and reactive oxygen species production with the development of a painful neuropathy that preferentially affects small-diameter axons.