Marangi G - Search Results

1

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P… See abstract for full author list ➔ Nicolas A, et al. Among authors: marangi g. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.

2

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Faravelli F, et al. Among authors: marangi g. Am J Med Genet A. 2007 Jun 1;143A(11):1169-73. doi: 10.1002/ajmg.a.31723. Am J Med Genet A. 2007. PMID: 17480006

3

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Luigetti M, Conte A, Madia F, Mereu ML, Zollino M, Marangi G, Pomponi MG, Liberatore G, Tonali PA, Sabatelli M. Luigetti M, et al. Among authors: marangi g. Muscle Nerve. 2008 Aug;38(2):1060-4. doi: 10.1002/mus.21083. Muscle Nerve. 2008. PMID: 18642376

4

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. Zollino M, et al. Among authors: marangi g. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Am J Med Genet C Semin Med Genet. 2008. PMID: 18932124 Review.

5

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.

Orrico A, Zollino M, Galli L, Buoni S, Marangi G, Sorrentino V. Orrico A, et al. Among authors: marangi g. Am J Med Genet A. 2009 May;149A(5):1033-5. doi: 10.1002/ajmg.a.32785. Am J Med Genet A. 2009. PMID: 19396834

6

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, Mancuso I, Limatola C, Trettel F, Sobrero F, Di Angelantonio S, Grassi F, Di Castro A, Moriconi C, Fucile S, Lattante S, Marangi G, Murdolo M, Orteschi D, Del Grande A, Tonali P, Neri G, Zollino M. Sabatelli M, et al. Among authors: marangi g. Hum Mol Genet. 2009 Oct 15;18(20):3997-4006. doi: 10.1093/hmg/ddp339. Epub 2009 Jul 23. Hum Mol Genet. 2009. PMID: 19628475

7

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.

Luigetti M, Conte A, Madia F, Marangi G, Zollino M, Mancuso I, Dileone M, Del Grande A, Di Lazzaro V, Tonali PA, Sabatelli M. Luigetti M, et al. Among authors: marangi g. Neurol Sci. 2009 Dec;30(6):517-20. doi: 10.1007/s10072-009-0125-8. Epub 2009 Aug 15. Neurol Sci. 2009. PMID: 19685200

8

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

Luigetti M, Madia F, Conte A, Marangi G, Zollino M, Del Grande A, Dileone M, Tonali PA, Sabatelli M. Luigetti M, et al. Among authors: marangi g. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):479-82. doi: 10.3109/17482960802302261. Amyotroph Lateral Scler. 2009. PMID: 19922144

9

A novel L67P SOD1 mutation in an Italian ALS patient.

del Grande A, Luigetti M, Conte A, Mancuso I, Lattante S, Marangi G, Stipa G, Zollino M, Sabatelli M. del Grande A, et al. Among authors: marangi g. Amyotroph Lateral Scler. 2011 Mar;12(2):150-2. doi: 10.3109/17482968.2011.551939. Epub 2011 Jan 19. Amyotroph Lateral Scler. 2011. PMID: 21247266

10

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant.

Luigetti M, Lattante S, Zollino M, Conte A, Marangi G, Del Grande A, Sabatelli M. Luigetti M, et al. Among authors: marangi g. Neurobiol Aging. 2011 Oct;32(10):1924.e15-8. doi: 10.1016/j.neurobiolaging.2011.04.004. Epub 2011 May 28. Neurobiol Aging. 2011. PMID: 21621297

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