Targeting earlier diagnosis: What symptoms come first in Degenerative Cervical Myelopathy? von Munro, Colin F, Yurac, Ratko, Moritz, Zipser Carl, Fehlings, Michael G, Rodrigues-Pinto, Ricardo, Milligan, James, Margetis, Konstantinos, Kotter, Mark R N, Davies, Benjamin M

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Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma von Blaydon, Diana C., Lind, Lisbet K., Plagnol, Vincent, Linton, Kenneth J., Smith, Francis J.D., Wilson, Neil J., McLean, W.H. Irwin, Munro, Colin S., South, Andrew P., Leigh, Irene M., O’Toole, Edel A., Lundström, Anita, Kelsell, David P.

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris von McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip

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A Novel Insight Into the Challenges of Diagnosing Degenerative Cervical Myelopathy Using Web-Based Symptom Checkers von Davies, Benjamin Marshall, Munro, Colin Fraser, Kotter, Mark Rn

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Machine Learning and Symptom Patterns in Degenerative Cervical Myelopathy: Web-Based Survey Study von Touzet, Alvaro Yanez, Rujeedawa, Tanzil, Munro, Colin, Margetis, Konstantinos, Davies, Benjamin M

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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema von van Steensel, Maurice A M, Hull, Peter R, Palmer, Colin N A, Clayton, Timothy H, Sandilands, Aileen, Evans, Alan T, Bradley, Daniel G, Nagtzaam, Ivo, Campbell, Linda E, Terron-Kwiatkowski, Ana, Carrick, Thomas, Irvine, Alan D, Liao, Haihui, O'Regan, Gráinne M, Steijlen, Peter M, Gruber, Robert, Watson, Rosemarie M, Elias, Peter M, Schmuth, Matthias, McLean, W H Irwin, van Geel, Michel, Munro, Colin S, Smith, Frances J D, Zhao, Yiwei, Janecke, Andreas R

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Clinical and Pathological Features of Pachyonychia Congenita von Leachman, Sancy A., Kaspar, Roger L., Fleckman, Philip, Florell, Scott R., Smith, Frances J.D., McLean, W.H. Irwin, Lunny, Declan P., Milstone, Leonard M., van Steensel, Maurice A.M., Munro, Colin S., O'Toole, Edel A., Celebi, Julide T., Kansky, Aleksej, Lane, EBirgitte

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Novel ATP2A2 mutations in a large sample of individuals with Darier disease von Green, Elaine K., Gordon-Smith, Katherine, Burge, Susan M., Grozeva, Detelina, Munro, Colin S., Tavadia, Sherine, Jones, Lisa, Craddock, Nicholoas

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trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation von Rouan, F, White, T W, Brown, N, Taylor, A M, Lucke, T W, Paul, D L, Munro, C S, Uitto, J, Hodgins, M B, Richard, G

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A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families von Maestrini, Elena, Korge, Bernhard P., Ocaña-Sierra, Juan, Calzolari, Elisa, Cambiaghi, Stefano, Scudder, Pat M., Hovnanian, Alain, Monaco, Anthony P., Munro, Colin S.

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Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin von Norgett, Elizabeth E., Lucke, Tom W., Bowers, Bill, Munro, Colin S., Leigh, Irene M., Kelsell, David P.

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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma von Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D, Moran, Benvon, Wilson, Neil J, Smith, Frances J D, Goh, Christabelle S M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J, Evans, Alan T, Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Mitsuhiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J, McGrath, John A, Brown, Sara J, Goudie, David R, Reversade, Bruno, Munro, Colin S, McLean, W H Irwin

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The Genetic Basis of Pachyonychia Congenita von Smith, Frances J.D., Liao, Haihui, Cassidy, Andrew J., Stewart, Arlene, Hamill, Kevin J., Wood, Pamela, Joval, Iris, van Steensel, Maurice A.M., Björck, Erik, Callif-Daley, Faith, Pals, Gerald, Collins, Paul, Leachman, Sancy A., Munro, Colin S., McLean, W. H. Irwin

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Molecular genetics of the skin: the implications of understanding von Munro, Colin S

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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease von SAKUNTABHAI, A, RUIZ-PEREZ, V, KUCHERLAPATI, R, REES, J. L, OWEN, M, LATHROP, G. M, MONACO, A. P, STRACHAN, T, HOVNANIAN, A, CARTER, S, JACOBSEN, N, BURGE, S, MONK, S, SMITH, M, MUNRO, C. S, O'DONOVAN, M, CRADDOCK, N

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Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly von Sergeant, Ann, Campbell, Linda E., Hull, Peter R., Porter, Martin, Palmer, Colin N.A., Smith, Frances J.D., McLean, W H Irwin, Munro, Colin S.

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Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene von Dobson-Stone, Carol, Fairclough, Rebecca, Dunne, Eimear, Brown, Joanna, Monaco, Anthony P., Hovnanian, Alain, Dissanayake, Manel, Munro, Colin S., Strachan, Tom, Burge, Susan, Sudbrak, Ralf

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Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin von Sandilands, Aileen, Brown, Sara J., Goh, Christabelle S., Pohler, Elizabeth, Wilson, Neil J., Campbell, Linda E., Miyamoto, Kenichi, Kubo, Akiharu, Irvine, Alan D., Thawer-Esmail, Fatema, Munro, Colin S., Irwin McLean, W.H., Kudoh, Jun, Amagai, Masayuki, Matsui, Takeshi

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Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels von Fairclough, Rebecca J., Lonie, Lorne, Van Baelen, Kurt, Haftek, Marek, Munro, Colin S., Burge, Susan M., Hovnanian, Alain

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Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris von Common, John E.A., Brown, Sara J., Haines, Rebecca L., Goh, Christabelle S.M., Chen, Huijia, Balakrishnan, Anita, Munro, Colin S., Tan, Audrey W.H., Tan, H.H., Tang, Mark B.Y., Lane, E. Birgitte

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