Resultados de búsqueda - Nahorski, Michael

A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site por Shaikh, Samiha S, Nahorski, Michael S, Woods, C Geoffrey

Enlace del recurso Enlace del recurso Enlace del recurso

Before progressing from “exomes” to “genomes”… don’t forget splicing variants por Shaikh, Samiha S., Nahorski, Michael S., Rai, Harjeet, Woods, C. Geoffrey

Enlace del recurso Enlace del recurso Enlace del recurso

Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes por Stouffer, Kaitlin, Nahorski, Michael, Moreno, Pablo, Sarveswaran, Nivedita, Menon, David, Lee, Michael, Geoffrey Woods, C.

Enlace del recurso Enlace del recurso Enlace del recurso

A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV) por Shaikh, Samiha S., Chen, Ya‐Chun, Halsall, Sally‐Anne, Nahorski, Michael S., Omoto, Kiyoyuki, Young, Gareth T., Phelan, Anne, Woods, Christopher Geoffrey

Enlace del recurso Enlace del recurso Enlace del recurso

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development por Nahorski, Michael S., Borner, Georg H. H., Shaikh, Samiha S., Davies, Alexandra K., Al-Gazali, Lihadh, Antrobus, Robin, Woods, C. Geoffrey

Enlace del recurso Enlace del recurso Enlace del recurso

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis por Nahorski, Michael S., Seabra, Laurence, Straatman-Iwanowska, Ania, Wingenfeld, Aileen, Reiman, Anne, Lu, Xiaohong, Klomp, Jeff A., Teh, Bin T., Hatzfeld, Mechthild, Gissen, Paul, Maher, Eamonn R.

Enlace del recurso Enlace del recurso Enlace del recurso

CCDC88A mutations cause PEHO-like syndrome in humans and mouse por Nahorski, Michael S., Asai, Masato, Wakeling, Emma, Parker, Alasdair, Asai, Naoya, Canham, Natalie, Holder, Susan E., Chen, Ya-Chun, Dyer, Joshua, Brady, Angela F., Takahashi, Masahide, Woods, C. Geoffrey

Enlace del recurso Enlace del recurso Enlace del recurso

Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly por Drissi, Ichrak, Fletcher, Emily, Shaheen, Ranad, Nahorski, Michael, Alhashem, Amal M, Lisgo, Steve, Fernández-Jaén, Alberto, Schon, Katherine, Tlili-Graiess, Kalthoum, Smithson, Sarah F, Lindsay, Susan, J Sharpe, Hayley, Alkuraya, Fowzan S, Woods, Geoff

Enlace del recurso Enlace del recurso Enlace del recurso

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development por Nahorski, Michael S., Al-Gazali, Lihadh, Hertecant, Jozef, Owen, David J., Borner, Georg H. H., Chen, Ya-Chun, Benn, Caroline L., Carvalho, Ofélia P., Shaikh, Samiha S., Phelan, Anne, Robinson, Margaret S., Royle, Stephen J., Woods, C. Geoffrey

Enlace del recurso Enlace del recurso Enlace del recurso

Neurodevelopmental protein Musashi 1 interacts with the Zika genome and promotes viral replication por Chavali, Pavithra L., Stojic, Lovorka, Meredith, Luke W., Joseph, Nimesh, Nahorski, Michael S., Sanford, Thomas J., Sweeney, Trevor R., Krishna, Ben A., Hosmillo, Myra, Firth, Andrew E., Bayliss, Richard, Marcelis, Carlo L., Lindsay, Susan, Goodfellow, Ian, Woods, C. Geoffrey, Gergely, Fanni

Enlace del recurso Enlace del recurso Enlace del recurso

Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel K(V)6.4 Subunit por Lee, Michael C., Nahorski, Michael S., Hockley, James R.F., Lu, Van B., Ison, Gillian, Pattison, Luke A., Callejo, Gerard, Stouffer, Kaitlin, Fletcher, Emily, Brown, Christopher, Drissi, Ichrak, Wheeler, Daniel, Ernfors, Patrik, Menon, David, Reimann, Frank, Smith, Ewan St. John, Woods, C. Geoffrey

Enlace del recurso Enlace del recurso Enlace del recurso

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development por Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S

Enlace del recurso Enlace del recurso Enlace del recurso

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins por Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine

Enlace del recurso Enlace del recurso Enlace del recurso

Transcriptional regulator PRDM12 is essential for human pain perception por Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan

Enlace del recurso Enlace del recurso Enlace del recurso