Schlesinger D - Search Results

1

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Valdmanis PN, et al. Among authors: schlesinger d. Am J Hum Genet. 2007 Jan;80(1):152-61. doi: 10.1086/510782. Epub 2006 Dec 1. Am J Hum Genet. 2007. PMID: 17160902 Free PMC article.

2

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. Vieira NM, et al. Among authors: schlesinger d. Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18. Hum Mol Genet. 2014. PMID: 24647604

3

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: schlesinger d. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945. Hum Mutat. 2009. PMID: 19105190 Free article.

4

Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.

Vieira NM, Schlesinger D, de Paula F, Vainzof M, Zatz M. Vieira NM, et al. Among authors: schlesinger d. Neuromuscul Disord. 2006 Dec;16(12):870-3. doi: 10.1016/j.nmd.2006.08.007. Epub 2006 Nov 20. Neuromuscul Disord. 2006. PMID: 17113772

5

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

Starling A, Schlesinger D, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. Starling A, et al. Among authors: schlesinger d. Neurology. 2005 Dec 13;65(11):1832-3. doi: 10.1212/01.wnl.0000187073.58307.41. Neurology. 2005. PMID: 16344536

6

Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations.

Longuini VC, Lourenço DM Jr, Sekiya T, Meirelles O, Goncalves TD, Coutinho FL, Francisco G, Osaki LH, Chammas R, Alves VA, Siqueira SA, Schlesinger D, Naslavsky MS, Zatz M, Duarte YA, Lebrão ML, Gama P, Lee M, Molatore S, Pereira MA, Jallad RS, Bronstein MD, Cunha-Neto MB, Liberman B, Fragoso MC, Toledo SP, Pellegata NS, Toledo RA. Longuini VC, et al. Among authors: schlesinger d. Eur J Endocrinol. 2014 Sep;171(3):335-42. doi: 10.1530/EJE-14-0130. Epub 2014 Jun 11. Eur J Endocrinol. 2014. PMID: 24920291

7

A microdeletion in Alzheimer's disease disrupts NAMPT gene.

Villela D, Schlesinger D, Suemoto CK, Grinberg LT, Rosenberg C. Villela D, et al. Among authors: schlesinger d. J Genet. 2014 Aug;93(2):535-7. doi: 10.1007/s12041-014-0399-3. J Genet. 2014. PMID: 25189255 No abstract available.

8

African ancestry protects against Alzheimer's disease-related neuropathology.

Schlesinger D, Grinberg LT, Alba JG, Naslavsky MS, Licinio L, Farfel JM, Suemoto CK, de Lucena Ferretti RE, Leite RE, de Andrade MP, dos Santos AC, Brentani H, Pasqualucci CA, Nitrini R, Jacob-Filho W, Zatz M; Brazilian Aging Brain Study Group. Schlesinger D, et al. Mol Psychiatry. 2013 Jan;18(1):79-85. doi: 10.1038/mp.2011.136. Epub 2011 Nov 8. Mol Psychiatry. 2013. PMID: 22064377 Free PMC article.

9

Autosomal recessive ataxias: 20 types, and counting.

Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Embiruçu EK, et al. Among authors: schlesinger d. Arq Neuropsiquiatr. 2009 Dec;67(4):1143-56. doi: 10.1590/s0004-282x2009000600036. Arq Neuropsiquiatr. 2009. PMID: 20069237 Free article. Review.

10

p27 variant and corticotropinoma susceptibility: a genetic and in vitro study.

Sekiya T, Bronstein MD, Benfini K, Longuini VC, Jallad RS, Machado MC, Goncalves TD, Osaki LH, Higashi L, Viana J Jr, Kater C, Lee M, Molatore S, Francisco G, Chammas R, Naslavsky MS, Schlesinger D, Gama P, Duarte YA, Lebrão ML, Zatz M, Meirelles O, Liberman B, Fragoso MC, Toledo SP, Pellegata NS, Toledo RA. Sekiya T, et al. Among authors: schlesinger d. Endocr Relat Cancer. 2014 Apr 28;21(3):395-404. doi: 10.1530/ERC-13-0486. Print 2014 Jun. Endocr Relat Cancer. 2014. PMID: 24532476

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