Resultados da pesquisa - (( j genet nerve en dis ) OR ((( j benito narvaez jose doses ) OR ( j mengual herve age goes ))))

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1

Psychiatrists’ views of the genetic bases of mental disorders and behavioral traits and their utilization of genetic tests

Psychiatrists’ views of the genetic bases of mental disorders and behavioral traits and their utilization of genetic tests

Por Abbate, Kristopher J., Chung, Wendy, Marder, Karen, Ottman, Ruth, Taber, Katherine Johansen, Leu, Cheng-Shiun, Appelbaum, Paul S.
Publicado no J Nerv Ment Dis (2014)

“...We examined how 372 psychiatrists view genetic aspects of mental disorders and behaviors, and use...”
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2

On the Age of Leprosy

On the Age of Leprosy

Por Han, Xiang Y., Silva, Francisco J.
Publicado em 2014

“...Leprosy is a chronic infection of the skin and nerves caused by Mycobacterium leprae and the newly...”
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3

Genetic Variation in Toll-Interacting Protein Is Associated With Leprosy Susceptibility and Cutaneous Expression of Interleukin 1 Receptor Antagonist

Genetic Variation in Toll-Interacting Protein Is Associated With Leprosy Susceptibility and Cutaneous Expression of Interleukin 1 Receptor Antagonist

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...”
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4

Olfactory Neuroepithelial Neural Progenitor Cells from Subjects with Bipolar I Disorder

Olfactory Neuroepithelial Neural Progenitor Cells from Subjects with Bipolar I Disorder

Por Gao, Yonglin, Winstead, Welby, Lei, Zhenmin, Lu, Chengliang, Roisen, Fred J., El-Mallakh, Rif S.
Publicado no J Cent Nerv Syst Dis (2017)

“... pathological cellular processes without the confounding factors of genetic manipulation, which is required...”
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5

Pre-miR-146a (rs2910164 G>C) Single Nucleotide Polymorphism Is Genetically and Functionally Associated with Leprosy

Pre-miR-146a (rs2910164 G>C) Single Nucleotide Polymorphism Is Genetically and Functionally Associated with Leprosy

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...”
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6

Molecular analysis of axonal-intrinsic and glial-associated co-regulation of axon degeneration

Molecular analysis of axonal-intrinsic and glial-associated co-regulation of axon degeneration

Por Catenaccio, Alejandra, Llavero Hurtado, Maica, Diaz, Paula, Lamont, Douglas J, Wishart, Thomas M, Court, Felipe A
Publicado no Cell Death Dis (2017)

“... for axonal regeneration and functional recovery after nerve damage. Here we provide a functional molecular...”
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7

Triggers for Autism: Genetic and Environmental Factors

Triggers for Autism: Genetic and Environmental Factors

Por Matsuzaki, Hideo, Iwata, Keiko, Manabe, Takayuki, Mori, Norio
Publicado em 2012

“... demonstrated that genetic and environmental factors play a major role in the development of autism. However...”
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8

Increased density of inhibitory noradrenergic parenchymal nerve fibers in hypertrophic islets of Langerhans of obese mice

Increased density of inhibitory noradrenergic parenchymal nerve fibers in hypertrophic islets of Langerhans of obese mice

Por Giannulis, I., Mondini, E., Cinti, F., Frontini, A., Murano, I., Barazzoni, R., Barbatelli, G., Accili, D., Cinti, S.
Publicado em 2013

“.... We analyzed genetically obese ob/ob and db/db mice at different ages (6- and 15-week-old...”
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9

Use of Short Tandem Repeat Sequences to Study Mycobacterium leprae in Leprosy Patients in Malawi and India

Use of Short Tandem Repeat Sequences to Study Mycobacterium leprae in Leprosy Patients in Malawi and India

Por Young, Saroj K., Ponnighaus, Jorg M., Jain, Suman, Lucas, Sebastian, Suneetha, Sujai, Lockwood, Diana N. J., Young, Douglas B., Fine, Paul E. M.
Publicado em 2008

“...: Lineages of M. leprae undergo changes in their pattern of short tandem repeat sequences over time. Genetic...”
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10

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Por Semmler, Anna-Lena, Sacconi, Sabrina, Bach, J Elisa, Liebe, Claus, Bürmann, Jan, Kley, Rudolf A, Ferbert, Andreas, Anderheiden, Roland, Van den Bergh, Peter, Martin, Jean-Jacques, De Jonghe, Peter, Neuen-Jacob, Eva, Müller, Oliver, Deschauer, Marcus, Bergmann, Markus, Schröder, J Michael, Vorgerd, Matthias, Schulz, Jörg B, Weis, Joachim, Kress, Wolfram, Claeys, Kristl G
Publicado no Orphanet J Rare Dis (2014)

“...BACKGROUND: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically...”
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11

A canine BCAN microdeletion associated with episodic falling syndrome

A canine BCAN microdeletion associated with episodic falling syndrome

Por Gill, Jennifer L., Tsai, Kate L., Krey, Christa, Noorai, Rooksana E., Vanbellinghen, Jean-François, Garosi, Laurent S., Shelton, G. Diane, Clark, Leigh Anne, Harvey, Robert J.
Publicado em 2012

“... stability and nerve conduction velocity. Mapping of the deletion breakpoint enabled the development...”
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12

Combination of heterologous fibrin sealant and bioengineered human embryonic stem cells to improve regeneration following autogenous sciatic nerve grafting repair

Combination of heterologous fibrin sealant and bioengineered human embryonic stem cells to improve regeneration following autogenous sciatic nerve grafting repair

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...”
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13

Norepinephrine transporter variant A457P knock-in mice display key features of human postural orthostatic tachycardia syndrome

Norepinephrine transporter variant A457P knock-in mice display key features of human postural orthostatic tachycardia syndrome

Por Shirey-Rice, Jana K., Klar, Rebecca, Fentress, Hugh M., Redmon, Sarah N., Sabb, Tiffany R., Krueger, Jessica J., Wallace, Nathan M., Appalsamy, Martin, Finney, Charlene, Lonce, Suzanna, Diedrich, André, Hahn, Maureen K.
Publicado em 2013

“... nerve terminals. Our in vitro studies demonstrate that A457P reduces both NET surface trafficking and NE...”
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14

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia

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...”
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15

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

Por Ermanoska, Biljana, Motley, William W., Leitão-Gonçalves, Ricardo, Asselbergh, Bob, Lee, LaTasha H., De Rijk, Peter, Sleegers, Kristel, Ooms, Tinne, Godenschwege, Tanja A., Timmerman, Vincent, Fischbeck, Kenneth H., Jordanova, Albena
Publicado em 2014

“... of every cell. Yet, mutations in six tRNA synthetases specifically affect the peripheral nerves and cause...”
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16

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

Por Brunetti, Orazio, Imbrici, Paola, Botti, Fabio Massimo, Pettorossi, Vito Enrico, D'Adamo, Maria Cristina, Valentino, Mario, Zammit, Christian, Mora, Marina, Gibertini, Sara, Di Giovanni, Giuseppe, Muscat, Richard, Pessia, Mauro
Publicado em 2012

“... by myokymia and attacks of ataxic gait often precipitated by stress. Several genetic mutations have been...”
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17

Muscle-Eye-Brain Disease

Muscle-Eye-Brain Disease

Por Shenoy, Anant M., Markowitz, Jennifer A., Bonnemann, Carsten G., Krishnamoorthy, Kalpathy, Bossler, Aaron D., Tseng, Brian S.
Publicado em 2010

“... weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence...”
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18

CHARGE syndrome

CHARGE syndrome

Por Blake, Kim D, Prasad, Chitra
Publicado em 2006

“... ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four...”
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19

Experimental Models of Microvascular Immunopathology: The Example of Cerebral Malaria

Experimental Models of Microvascular Immunopathology: The Example of Cerebral Malaria

Por El-Assaad, Fatima, Combes, Valery, Grau, Georges ER
Publicado no J Neuroinfect Dis (2014)

“... compromise cerebral blood flow, cause cranial nerve dysfunction and hypoxia. Study of the cerebral pathology...”
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20

Polycystic liver diseases

Polycystic liver diseases

Por Onori, P., Franchitto, A., Mancinelli, R., Carpino, G., Alvaro, D., Francis, H., Alpini, G., Gaudio, E.
Publicado em 2010

“...Polycystic liver diseases (PCLDs) are genetic disorders with heterogeneous etiologies and a range...”
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