In-Vivo Reflectance Confocal Microscopy of Meissner’s Corpuscles in Diabetic Distal Symmetric Polyneuropathy

af Creigh, Peter D., McDermott, Michael P., Sowden, Janet E., Ferguson, Michele, Herrmann, David N.
Udgivet i J Neurol Sci (2017)

Patient Identification of the Symptomatic Impact of Charcot Marie Tooth Disease Type 1A

af Johnson, Nicholas E, Heatwole, Chad R., Ferguson, Michele, Sowden, Janet E., Jeanat, Shanie, Herrmann, David N.
Udgivet 2013

Measuring peripheral nerve involvement in Friedreich’s ataxia

af Creigh, Peter D., Mountain, Joan, Sowden, Janet E., Eichinger, Katy, Ravina, Bernard, Larkindale, Jane, Herrmann, David N.
Udgivet i Ann Clin Transl Neurol (2019)

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

af Whittaker, Roger G., Herrmann, David N., Bansagi, Boglarka, Hasan, Bashar Awwad Shiekh, Lofra, Robert Muni, Logigian, Eric L., Sowden, Janet E., Almodovar, Jorge L., Littleton, J. Troy, Zuchner, Stephan, Horvath, Rita, Lochmüller, Hanns
Udgivet i Neurology (2015)

Reliability of the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM)

af Bray, Paula, Cornett, Kayla MD, Estilow, Timothy, Pareyson, Davide, Zuccarino, Riccardo, Skorupinska, Mariola, Pipis, Menelaos, Sowden, Janet E, Scherer, Steven, Reilly, Mary M, Shy, Michael E, Herrmann, David N, Burns, Joshua, Eichinger, Katy J
Udgivet i J Peripher Nerv Syst (2020)

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

af Herrmann, David N., Horvath, Rita, Sowden, Janet E., Gonzales, Michael, Sanchez-Mejias, Avencia, Guan, Zhuo, Whittaker, Roger G., Almodovar, Jorge L., Lane, Maria, Bansagi, Boglarka, Pyle, Angela, Boczonadi, Veronika, Lochmüller, Hanns, Griffin, Helen, Chinnery, Patrick F., Lloyd, Thomas E., Littleton, J. Troy, Zuchner, Stephan
Udgivet 2014

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

af Herrmann, David N., Horvath, Rita, Sowden, Janet E., Gonzalez, Michael, Sanchez-Mejias, Avencia, Guan, Zhuo, Whittaker, Roger G., Almodovar, Jorge L., Lane, Maria, Bansagi, Boglarka, Pyle, Angela, Boczonadi, Veronika, Lochmüller, Hanns, Griffin, Helen, Chinnery, Patrick F., Lloyd, Thomas E., Littleton, J. Troy, Zuchner, Stephan
Udgivet 2014

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

af Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.
Udgivet 2013

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

af 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.
Udgivet i Brain (2015)

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

af 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.
Udgivet i Brain (2015)