Bilateral posterior cerebral artery infarction

di Ryan, Davinia, Murphy, Sinead M, Hennessey, Michael J
Pubblicazione 2010

An unusual cause of cavernous sinus syndrome

di Smyth, Andrew, Murphy, Sinead M, Counihan, Timothy J
Pubblicazione 2009

Unintended Effects of Orphan Product Designation for Rare Neurological Diseases

di Murphy, Sinéad M, Puwanant, Araya, Griggs, Robert C.
Pubblicazione 2012

Mutation in FAM134B causing severe hereditary sensory neuropathy

di Murphy, Sinead M, Davidson, Gabrielle L, Brandner, Sebastian, Houlden, Henry, Reilly, Mary M
Pubblicazione 2010

Anoctamin 10‐Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship

di Bogdanova‐Mihaylova, Petya, Austin, Neil, Alexander, Michael D., Cassidy, Lorraine, Early, Anne, Murphy, Raymond P., Murphy, Sinéad M., Walsh, Richard A.
Pubblicato in Mov Disord Clin Pract (2016)

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene

di Rossor, Alexander M., Morrow, Jasper M., Polke, James M., Murphy, Sinead M., Houlden, Henry, Laura, Matilde, Manji, Hadi, Blake, Julian, Reilly, Mary M.
Pubblicato in Neuromuscul Disord (2017)

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

di Murphy, Sinéad M., Ernst, Daniela, Wei, Yu, Laurà, Matilde, Liu, Yo-Tsen, Polke, James, Blake, Julian, Winer, John, Houlden, Henry, Hornemann, Thorsten, Reilly, Mary M.
Pubblicazione 2013

X inactivation in females with X-linked Charcot–Marie–Tooth disease

di Murphy, Sinéad M., Ovens, Richard, Polke, James, Siskind, Carly E., Laurà, Matilde, Bull, Karen, Ramdharry, Gita, Houlden, Henry, Murphy, Raymond P.J., Shy, Michael E., Reilly, Mary M.
Pubblicazione 2012

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

di Bansagi, Boglarka, Antoniadi, Thalia, Burton-Jones, Sarah, Murphy, Sinead M., McHugh, John, Alexander, Michael, Wells, Richard, Davies, Joanna, Hilton-Jones, David, Lochmüller, Hanns, Chinnery, Patrick, Horvath, Rita
Pubblicato in J Neurol (2015)

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

di Ernst, Daniela, Murphy, Sinéad M., Sathiyanadan, Karthik, Wei, Yu, Othman, Alaa, Laurá, Matilde, Liu, Yo-Tsen, Penno, Anke, Blake, Julian, Donaghy, Michael, Houlden, Henry, Reilly, Mary M., Hornemann, Thorsten
Pubblicato in Neuromolecular Med (2015)

A novel locus for episodic ataxia:UBR4 the likely candidate

di Conroy, Judith, McGettigan, Paul, Murphy, Raymond, Webb, David, Murphy, Sinéad M, McCoy, Blathnaid, Albertyn, Christine, McCreary, Dara, McDonagh, Cara, Walsh, Orla, Lynch, SallyAnn, Ennis, Sean
Pubblicazione 2014

Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes

di Murphy, Sinead M, Khan, Usman, Alifrangis, Constantine, Hazell, Steven, Hrouda, David, Blake, Julian, Ball, Joanna, Gabriel, Carolyn, Markarian, Pierre, Rees, Jeremy, Karim, Abid, Seckl, Michael J, Lunn, Michael P, Reilly, Mary M
Pubblicazione 2011

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

di Murphy, Sinead M., Laura, Matilde, Fawcett, Katherine, Pandraud, Amelie, Liu, Yo-Tsen, Davidson, Gabrielle L, Rossor, Alexander M, Polke, James M, Castleman, Victoria, Manji, Hadi, Lunn, Michael P T, Bull, Karen, Ramdharry, Gita, Davis, Mary, Blake, Julian C, Houlden, Henry, Reilly, Mary M
Pubblicazione 2012

Simultaneous assessment of plaque morphology, cerebral micro-embolic signal status and platelet biomarkers in patients with recently symptomatic and asymptomatic carotid stenosis

di Murphy, Stephen J, Lim, Soon T, Kinsella, Justin A, Tierney, Sean, Egan, Bridget, Feeley, Tim M, Dooley, Clare, Kelly, James, Murphy, Sinead M, Walsh, Richard A, Collins, Ronan, Coughlan, Tara, O’Neill, Desmond, Harbison, Joseph A, Madhavan, Prakash, O’Neill, Sean M, Colgan, Mary P, Meaney, Jim F, Hamilton, George, McCabe, Dominick JH
Pubblicato in J Cereb Blood Flow Metab (2019)

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

di Pitceathly, Robert D.S., Murphy, Sinéad M., Cottenie, Ellen, Chalasani, Annapurna, Sweeney, Mary G., Woodward, Cathy, Mudanohwo, Ese E., Hargreaves, Iain, Heales, Simon, Land, John, Holton, Janice L., Houlden, Henry, Blake, Julian, Champion, Michael, Flinter, Frances, Robb, Stephanie A., Page, Rupert, Rose, Michael, Palace, Jacqueline, Crowe, Carol, Longman, Cheryl, Lunn, Michael P., Rahman, Shamima, Reilly, Mary M., Hanna, Michael G.
Pubblicazione 2012

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

di Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzalez, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N., Blake, Julian, Sowden, Janet E., Acsadi, Gyuda, Rodriguez, Michael L., Menezes, Manoj P., Clarke, Nigel F., Auer Grumbach, Michaela, Bullock, Simon L., Muntoni, Francesco, Reilly, Mary M., North, Kathryn N.
Pubblicato in Brain (2015)

Reply: The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy

di Rossor, Alexander M., Oates, Emily C., Salter, Hannah K., Liu, Yang, Murphy, Sinead M., Schule, Rebecca, Gonzales, Michael A., Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A., Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N., Blake, Julian, Sowden, Janet E., Acsadi, Gyuda, Rodriguez, Michael L., Menezes, Manoj P., Clarke, Nigel F., Auer Grumbach, Michaela, Bullock, Simon L., Muntoni, Francesco, Reilly, Mary M., North, Kathryn N.
Pubblicato in Brain (2015)

Transcriptional regulator PRDM12 is essential for human pain perception

di 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
Pubblicato in Nat Genet (2015)