Bilateral posterior cerebral artery infarction

Por Ryan, Davinia, Murphy, Sinead M, Hennessey, Michael J
Publicado em 2010

An unusual cause of cavernous sinus syndrome

Por Smyth, Andrew, Murphy, Sinead M, Counihan, Timothy J
Publicado em 2009

Unintended Effects of Orphan Product Designation for Rare Neurological Diseases

Por Murphy, Sinéad M, Puwanant, Araya, Griggs, Robert C.
Publicado em 2012

Mutation in FAM134B causing severe hereditary sensory neuropathy

Por Murphy, Sinead M, Davidson, Gabrielle L, Brandner, Sebastian, Houlden, Henry, Reilly, Mary M
Publicado em 2010

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

Por Rossor, Alexander M., Morrow, Jasper M., Polke, James M., Murphy, Sinead M., Houlden, Henry, Laura, Matilde, Manji, Hadi, Blake, Julian, Reilly, Mary M.
Publicado no Neuromuscul Disord (2017)

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

Por 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.
Publicado em 2013

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

Por 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.
Publicado em 2012

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

Por 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
Publicado no J Neurol (2015)

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

Por 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
Publicado no Neuromolecular Med (2015)

A novel locus for episodic ataxia:UBR4 the likely candidate

Por 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
Publicado em 2014

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

Por 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
Publicado em 2011

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

Por 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
Publicado em 2012

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

Por 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.
Publicado em 2012

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

Por 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.
Publicado no Brain (2015)

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

Por 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.
Publicado no Brain (2015)