A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site

od Shaikh, Samiha S, Nahorski, Michael S, Woods, C Geoffrey
Wydane w Mol Pain (2018)

Before progressing from “exomes” to “genomes”… don’t forget splicing variants

od Shaikh, Samiha S., Nahorski, Michael S., Rai, Harjeet, Woods, C. Geoffrey
Wydane w Eur J Hum Genet (2018)

A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)

od Shaikh, Samiha S., Chen, Ya‐Chun, Halsall, Sally‐Anne, Nahorski, Michael S., Omoto, Kiyoyuki, Young, Gareth T., Phelan, Anne, Woods, Christopher Geoffrey
Wydane w Hum Mutat (2016)

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

od Nahorski, Michael S., Borner, Georg H. H., Shaikh, Samiha S., Davies, Alexandra K., Al-Gazali, Lihadh, Antrobus, Robin, Woods, C. Geoffrey
Wydane w Sci Rep (2018)

Phenotypic manifestation of α-synuclein strains derived from Parkinson’s disease and multiple system atrophy in human dopaminergic neurons

od Tanudjojo, Benedict, Shaikh, Samiha S., Fenyi, Alexis, Bousset, Luc, Agarwal, Devika, Marsh, Jade, Zois, Christos, Heman-Ackah, Sabrina, Fischer, Roman, Sims, David, Melki, Ronald, Tofaris, George K.
Wydane w Nat Commun (2021)

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

od 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
Wydane w Brain (2015)

Transcriptional regulator PRDM12 is essential for human pain perception

od 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
Wydane w Nat Genet (2015)