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1
Por Shenoy, Anant M., Markowitz, Jennifer A., Bonnemann, Carsten G., Krishnamoorthy, Kalpathy, Bossler, Aaron D., Tseng, Brian S.
Publicado em 2010
“..., and genetic studies are all consistent with the diagnosis of Muscle-Eye-Brain (MEB) disease. MEB is one...”Publicado em 2010
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2
Por Li, Kairong, Turner, Ashley N., Chen, Min, Brosius, Stephanie N., Schoeb, Trenton R., Messiaen, Ludwine M., Bedwell, David M., Zinn, Kurt R., Anastasaki, Corina, Gutmann, David H., Korf, Bruce R., Kesterson, Robert A.
Publicado no Dis Model Mech (2016)
“...Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence...”Publicado no Dis Model Mech (2016)
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3
“..., early fusion of cranial sutures, greatly increased bone density, nerve deafness, and life-long...”
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4
Por Mozafari, Roghayeh, Kyrylenko, Sergiy, Castro, Mateus Vidigal, Ferreira, Rui Seabra, Barraviera, Benedito, Oliveira, Alexandre Leite Rodrigues
Publicado no J Venom Anim Toxins Incl Trop Dis (2018)
“.... METHODS: Five millimeters of the sciatic nerve of C57BL/6 J mice were transected off and rotated 180...”Publicado no J Venom Anim Toxins Incl Trop Dis (2018)
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5
Por Cezar-de-Mello, Paula F. T., Toledo-Pinto, Thiago G., Marques, Carolinne S., Arnez, Lucia E. A., Cardoso, Cynthia C., Guerreiro, Luana T. A., Antunes, Sérgio L. G., Jardim, Márcia M., Covas, Claudia de J. F., Illaramendi, Ximena, Dias-Baptista, Ida M., Rosa, Patrícia S., Durães, Sandra M. B., Pacheco, Antonio G., Ribeiro-Alves, Marcelo, Sarno, Euzenir N., Moraes, Milton O.
Publicado em 2014
“... expression and could be involved during the infection. To address the genetic influence of miRNAs in leprosy...”Publicado em 2014
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6
“...). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic...”
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7
Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72
Por Kitano, Shouta, Kino, Yoshihiro, Yamamoto, Yoji, Takitani, Mika, Miyoshi, Junko, Ishida, Tsuyoshi, Saito, Yuko, Arima, Kunimasa, Satoh, Jun-ichi
Publicado no J Cent Nerv Syst Dis (2015)
“... of the chromosome 9 open reading frame 72 (C9orf72) gene represent the most common genetic abnormality for familial...”Publicado no J Cent Nerv Syst Dis (2015)
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8
Por Liaw, Hsiang-Ru, Lee, Hsiu-Fen, Chi, Ching-Shiang, Tsai, Chi-Ren
Publicado no Orphanet J Rare Dis (2015)
“...BACKGROUND: This study was conducted to describe the clinical and genetic features of patients...”Publicado no Orphanet J Rare Dis (2015)
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9
Por Shah, Javeed A., Berrington, William R., Vary, James C., Wells, Richard D., Peterson, Glenna J., Kunwar, Chhatra B., Khadge, Saraswoti, Hagge, Deanna A., Hawn, Thomas R.
Publicado no J Infect Dis (2016)
“...Leprosy is a chronic disease characterized by skin and peripheral nerve pathology and immune...”Publicado no J Infect Dis (2016)
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10
Por Coskun, Salih, Varol, Sefer, Ozdemir, Hasan H, Agacayak, Elif, Aydın, Birsen, Kapan, Oktay, Camkurt, Mehmet Akif, Tunc, Saban, Cevik, Mehmet Ugur
Publicado no Neuropsychiatr Dis Treat (2016)
“...Migraine is one of the most common neurological diseases worldwide. Migraine pathophysiology...”Publicado no Neuropsychiatr Dis Treat (2016)
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11
Por Turón-Viñas, Eulàlia, Pineda, Mercè, Cusí, Victòria, López-Laso, Eduardo, del Pozo, Rebeca Losada, Gutiérrez-Solana, Luis González, Moreno, David Conejo, Sierra-Córcoles, Concha, Olabarrieta-Hoyos, Naiara, Madruga-Garrido, Marcos, Aguirre-Rodríguez, Javier, González-Álvarez, Verónica, O’Callaghan, Mar, Muchart, Jordi, Armstrong-Moron, Judith
Publicado em 2014
“... cases), and eIF2B4 (1 case). In our report, the second mutation in frequency was c.318A>T; patients...”Publicado em 2014
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12
Por Acevedo-Arozena, Abraham, Kalmar, Bernadett, Essa, Shafa, Ricketts, Thomas, Joyce, Peter, Kent, Rosie, Rowe, Claire, Parker, Andy, Gray, Anna, Hafezparast, Majid, Thorpe, Julian R., Greensmith, Linda, Fisher, Elizabeth M. C.
Publicado em 2011
“... from genetic background and sex, and we quantify the loss of nerve and muscle function over time...”Publicado em 2011
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13
Por Satoh, Jun-ichi, Yamamoto, Yoji, Kitano, Shouta, Takitani, Mika, Asahina, Naohiro, Kino, Yoshihiro
Publicado em 2014
“... was reduced in iPSC-derived motor neurons of patients with C9ALS. The regulation of RNA processing...”Publicado em 2014
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14
Por Kim, B M, You, M-H, Chen, C-H, Lee, S, Hong, Y, Hong, Y, Kimchi, A, Zhou, X Z, Lee, T H
Publicado em 2014
“... that DAPK1 has been genetically linked to late onset AD, these results suggest that DAPK1 is a novel...”Publicado em 2014
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15
Por Hagge, Deanna A., Scollard, David M., Ray, Nashone A., Marks, Vilma T., Deming, Angelina T., Spencer, John S., Adams, Linda B.
Publicado em 2014
“... growth is restricted yet a severe granulomatous lesion can occur. The evolution and maintenance...”Publicado em 2014
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16
Por Leruez, Stéphanie, Verny, Christophe, Bonneau, Dominique, Procaccio, Vincent, Lenaers, Guy, Amati-Bonneau, Patrizia, Reynier, Pascal, Scherer, Clarisse, Prundean, Adriana, Orssaud, Christophe, Zanlonghi, Xavier, Rougier, Marie-Bénédicte, Tilikete, Caroline, Miléa, Dan
Publicado no Orphanet J Rare Dis (2018)
“... with genetically confirmed LHON, between July 2011 and April 2014, only five patients, four males and one female...”Publicado no Orphanet J Rare Dis (2018)
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17
Por Bischoff, Allison N., Reiersen, Angela M., Buttlaire, Anna, Al-lozi, Amal, Doty, Tasha, Marshall, Bess A., Hershey, Tamara
Publicado no Orphanet J Rare Dis (2015)
“... higher Hb(A1C) levels than WFS and as expected both groups had higher levels than HC. The WFS group...”Publicado no Orphanet J Rare Dis (2015)
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