Alzheimer's Disease
|
Duka, T. et al. (FASEB J, 2009)
|
Amyloid Neuropathies
|
Briani, C. et al. (Muscle Nerve, 2008)
|
Amyotrophic Lateral Sclerosis
|
Turner, B. J. et al. (Hum Mol Genet, 2010)
|
Axonal neuropathy
|
Santoro, L. et al. (J Neurol Neurosurg Psychiatry, 2004), Li, J. et al. (J Comp Neurol, 2006), Bai, Y. et al. (Arch Neurol, 2006), Briani, C. et al. (Muscle Nerve, 2008), Mandich, P. et al. (Eur J Hum Genet, 2009), Ionasescu, V. V. et al. (Muscle Nerve, 1993)
|
Charcot-Marie-Tooth Disease
|
De Jonghe, P. et al. (Brain, 1999), Nakagawa, M. et al. (Neurology, 1999), Keller, M. P. et al. (Brain Pathol, 1999), Mandich, P. et al. (Ann Neurol, 1999), Chapon, F. et al. (J Neurol Neurosurg Psychiatry, 1999), Bellone, E. et al. (Hum Mutat, 1999), Nelis, E. et al. (Neurogenetics, 1999), Lagueny, A. et al. (Neuromuscul Disord, 1999), Nicholson, G. A. (Ann N Y Acad Sci, 1999), Keller, M. P. et al. (Semin Neurol, 1999), Mersiyanova, I. V. et al. (Hum Mutat, 2000), Yoshihara, T. et al. (Hum Mutat, 2000), Fabrizi, G. M. et al. (Acta Neuropathol, 2000), Misu, K. et al. (J Neurol Neurosurg Psychiatry, 2000), Bissar-Tadmouri, N. et al. (Clin Genet, 2000), Tachi, N. et al. (Pediatr Neurol, 2001), Chance, P. F. (Phys Med Rehabil Clin N Am, 2001), Young, P. et al. (J Neurol, 2001), Mostacciuolo, M. L. et al. (Hum Mutat, 2001), Fabrizi, G. M. et al. (Neurology, 2001), Aarskog, N. K. et al. (J Neurol Sci, 2001), Senderek, J. et al. (J Neurol Sci, 2001), Bienfait, H. M. et al. (Neuromuscul Disord, 2002), Boerkoel, C. F. et al. (Ann Neurol, 2002), Boerkoel, C. F. et al. (Curr Neurol Neurosci Rep, 2002), Matsuyama, W. et al. (Acta Neuropathol, 2002), Berger, P. et al. (Neurogenetics, 2002), Street, V. A. et al. (Neuromuscul Disord, 2002), Watanabe, M. et al. (Neurology, 2002), Numakura, C. et al. (Hum Mutat, 2002), Hattori, N. et al. (Brain, 2003), Huehne, K. et al. (Hum Mutat, 2003), Kakar, R. et al. (Muscle Nerve, 2003), Leal, A. et al. (Neurogenetics, 2003), Vallat, J. M. (J Neuropathol Exp Neurol, 2003), Shames, I. et al. (J Neuropathol Exp Neurol, 2003), Kurihara, S. et al. (Acta Neurol Scand, 2003), Kochanski, A. et al. (Eur J Neurol, 2003), Stojkovic, T. et al. (Clin Neurophysiol, 2003), Lupski, J. R. et al. (Brain Pathol, 1992), Giese, K. P. et al. (Cell, 1992), Chance, P. F. et al. (Neurology, 1992), Auer-Grumbach, M. et al. (Neurology, 2003), Shy, M. E. et al. (Brain, 2004), Zuchner, S. et al. (Neuromuscul Disord, 2004), Santoro, L. et al. (J Neurol Neurosurg Psychiatry, 2004), Gemignani, F. et al. (J Peripher Nerv Syst, 2004), Kochanski, A. et al. (Neuromuscul Disord, 2004), Nowakowski, A. et al. (Acta Biochim Pol, 2004), Runker, A. E. et al. (J Cell Biol, 2004), Choi, B. O. et al. (Hum Mutat, 2004), Martini, R. et al. (Lancet Neurol, 2004), Kochanski, A. et al. (Eur J Paediatr Neurol, 2004), Seeman, P. et al. (Neurology, 2004), Kurihara, S. et al. (J Neurol Neurosurg Psychiatry, 2004), Kochanski, A. (Folia Neuropathol, 2004), Kijima, K. et al. (Hum Genet, 2005), Sowden, J. E. et al. (J Neurol Neurosurg Psychiatry, 2005), Lee, Y. C. et al. (J Neurol, 2005), Szabo, A. et al. (Neuromuscul Disord, 2005), Rajabally, Y. A. et al. (J Peripher Nerv Syst, 2005), Fabrizi, G. M. et al. (Neuromuscul Disord, 2006), Bienfait, H. M. et al. (J Neurol Neurosurg Psychiatry, 2006), Houlden, H. et al. (Neuromolecular Med, 2006), Chance, P. F. (Neuromolecular Med, 2006), Finsterer, J. et al. (Eur J Neurol, 2006), Fabrizi, G. M. et al. (Brain, 2007), Cho, H. J. et al. (Clin Genet, 2007), Hentati, A. et al. (Genomics, 1992), Neusch, C. et al. (Eur J Neurol, 2007), Souayah, N. et al. (J Neurol Sci, 2007), Nystad, M. et al. (Mutat Res, 2008), Laura, M. et al. (J Neurol Neurosurg Psychiatry, 2007), Lee, Y. C. et al. (Neurology, 2008), Hernandez-Zamora, E. et al. (Electrophoresis, 2008), Fischer, S. et al. (Mol Cell Neurosci, 2008), Grandis, M. et al. (Hum Mol Genet, 2008), Briani, C. et al. (Muscle Nerve, 2008), Larsson, L. et al. (Am J Physiol Cell Physiol, 2008), Magot, A. et al. (Muscle Nerve, 2008), Houlden, H. et al. (Neurology, 2009), Miltenberger-Miltenyi, G. et al. (Eur J Hum Genet, 2009), Mandich, P. et al. (Eur J Hum Genet, 2009), Zschuntzsch, J. et al. (J Neurol Sci, 2009), Desurkar, A. et al. (Neuropediatrics, 2009), Schneider-Gold, C. et al. (Muscle Nerve, 2010), Gudmundsson, B. et al. (Neuroepidemiology, 2010), Lee, G. et al. (J Neurol Sci, 2010), Bird, T. D. (, 1993), Brozkova, D. et al. (Clin Genet, 2010), Lee, Y. C. et al. (J Neurol, 2010), Braathen, G. J. et al. (Eur J Neurol, 2011), Luigetti, M. et al. (Clin Neurol Neurosurg, 2010), Banchs, I. et al. (Muscle Nerve, 2010), Kleffner, I. et al. (J Neurol, 2010), Piazza, S. et al. (Neuromuscul Disord, 2010), Drac, H. et al. (J Appl Genet, 2011), Murphy, S. M. et al. (Neuromuscul Disord, 2011), Reyes-Marin, K. et al. (Clin Neurol Neurosurg, 2011), Choi, B. O. et al. (Int J Mol Med, 2011), de Vries, S. D. et al. (J Peripher Nerv Syst, 2011), Iida, M. et al. (Neuromuscul Disord, 2012), Marttila, M. et al. (J Neurol, 2012), Maeda, M. H. et al. (Ann Neurol, 2012), Murphy, S. M. et al. (J Neurol Neurosurg Psychiatry, 2012), Ramirez, J. D. et al. (Pain, 2012), Liu, L. et al. (J Peripher Nerv Syst, 2013), Bergamin, G. et al. (Neuromolecular Med, 2014), Noto, Y. et al. (J Neurol Neurosurg Psychiatry, 2015), Agrahari, A. et al. (J Theor Biol, 2015), Manganelli, F. et al. (Neurology, 2015), Brugger, V. et al. (PLoS Biol, 2015), Posa, A. et al. (Clin Neurol Neurosurg, 2017), Griffiths, L. R. et al. (Am J Hum Genet, 1988), Son, D. et al. (Stem Cell Res, 2017), Griffiths, L. R. et al. (Neurology, 1989), Su, Y. et al. (Proc Natl Acad Sci U S A, 1993), Himoro, M. et al. (Biochem Mol Biol Int, 1993), Nelis, E. et al. (Hum Genet, 1994), Nelis, E. et al. (J Med Genet, 1994), Latour, P. et al. (Hum Mutat, 1995), Martini, R. et al. (Nat Genet, 1995), Hayasaka, K. et al. (Biochem Biophys Res Commun, 1993), Hayasaka, K. et al. (Nat Genet, 1993), Kulkens, T. et al. (Nat Genet, 1993), Hayasaka, K. et al. (Hum Mol Genet, 1993), Chance, P. F. et al. (Curr Opin Neurol, 1994), Chance, P. F. et al. (Hum Mol Genet, 1994), Mancardi, G. L. et al. (Eur Neurol, 1994), Wise, C. A. et al. (Am J Hum Genet, 1993), Roa, B. B. et al. (Am J Med Sci, 1993), Lebo, R. V. et al. (Am J Med Genet, 1993), Chance, P. F. et al. (Arch Neurol, 1993), Nicholson, G. et al. (Neurology, 1993), Ben Othmane, K. et al. (Genomics, 1993), Ionasescu, V. V. et al. (Muscle Nerve, 1993), Roa, B. B. et al. (Hum Mutat, 1996), Gabreels-Festen, A. A. et al. (Neurology, 1996), Nelis, E. et al. (Eur J Hum Genet, 1996), Warner, L. E. et al. (Neuron, 1996), Blanquet-Grossard, F. et al. (Clin Genet, 1995), Blanquet-Grossard, F. et al. (Hum Mutat, 1996), Murakami, T. et al. (Medicine (Baltimore), 1996), Meijerink, P. H. et al. (Ann Neurol, 1996), Ouvrier, R. (J Child Neurol, 1996), Sorour, E. et al. (Hum Mutat, 1997), Timmerman, V. et al. (J Med Genet, 1997), Kessali, M. et al. (Neurology, 1997), Bort, S. et al. (Hum Genet, 1997), Ikegami, T. et al. (Am J Med Genet, 1997), Martini, R. (J Anat, 1997), Schiavon, F. et al. (Hum Mutat, 1998), Sorour, E. et al. (Hum Mutat, 1998), Tachi, N. et al. (J Neurol Sci, 1997), Warner, L. E. et al. (Nat Genet, 1998), Silander, K. et al. (Hum Mutat, 1998), Nelis, E. et al. (J Med Genet, 1998)
|
Demyelinating Diseases
|
Stevens, F. J. et al. (Biochemistry, 2000)
|
Hypertrophic neuropathy of infancy
|
|
Inflammatory neuropathy
|
Massa, R. et al. (Muscle Nerve, 2006), Cottenie, E. et al. (Neuromuscul Disord, 2013)
|
Inherited neuropathies
|
Nakagawa, M. et al. (Neurology, 1999), Boerkoel, C. F. et al. (Curr Neurol Neurosci Rep, 2002), Shames, I. et al. (J Neuropathol Exp Neurol, 2003), Auer-Grumbach, M. et al. (Neurology, 2003), Zuchner, S. et al. (Neuromuscul Disord, 2004), Kilfoyle, D. H. et al. (J Neurol Neurosurg Psychiatry, 2006), Grandis, M. et al. (Hum Mol Genet, 2008), Vallat, J. M. et al. (J Neuropathol Exp Neurol, 2008), Mandich, P. et al. (Eur J Hum Genet, 2009), Brozkova, D. et al. (Clin Genet, 2010), Fratta, P. et al. (Hum Mol Genet, 2011), Baets, J. et al. (Brain, 2011), Murphy, S. M. et al. (J Neurol Neurosurg Psychiatry, 2012), Bergamin, G. et al. (Neuromolecular Med, 2014), Sanmaneechai, O. et al. (Brain, 2015)
|
Mixed sensory-motor polyneuropathy
|
Finsterer, J. et al. (Eur J Neurol, 2006)
|
Multiple Sclerosis
|
Rajabally, Y. A. et al. (J Peripher Nerv Syst, 2005), Kilfoyle, D. H. et al. (J Neurol Neurosurg Psychiatry, 2006)
|
nervous system disorder
|
Mostacciuolo, M. L. et al. (Hum Mutat, 2001), Larsson, L. et al. (Am J Physiol Cell Physiol, 2008)
|
Neuropathy
|
Nakagawa, M. et al. (Neurology, 1999), Keller, M. P. et al. (Brain Pathol, 1999), Keller, M. P. et al. (Semin Neurol, 1999), Donaghy, M. et al. (J Neurol Neurosurg Psychiatry, 2000), Lagueny, A. et al. (J Neurol Neurosurg Psychiatry, 2001), Chance, P. F. (Phys Med Rehabil Clin N Am, 2001), Gabreels-Festen, A. (J Anat, 2002), Watanabe, M. et al. (Neurology, 2002), Stojkovic, T. et al. (Clin Neurophysiol, 2003), Sereda, M. W. et al. (Nat Med, 2003), Auer-Grumbach, M. et al. (Neurology, 2003), Shy, M. E. et al. (Brain, 2004), Timmerman, V. et al. (J Neurol Sci, 1992), Martini, R. et al. (Lancet Neurol, 2004), Szabo, A. et al. (Neuromuscul Disord, 2005), Khajavi, M. et al. (Am J Hum Genet, 2005), Shy, M. E. (J Neurol Sci, 2006), Steck, A. J. et al. (J Peripher Nerv Syst, 2006), Kilfoyle, D. H. et al. (J Neurol Neurosurg Psychiatry, 2006), Sabet, A. et al. (Neurology, 2006), Floroskufi, P. et al. (Muscle Nerve, 2007), Bai, Y. et al. (Arch Neurol, 2006), Grandis, M. et al. (Hum Mol Genet, 2008), Zschuntzsch, J. et al. (J Neurol Sci, 2009), Luigetti, M. et al. (Clin Neurol Neurosurg, 2010), Kleffner, I. et al. (J Neurol, 2010), McMillan, H. J. et al. (Neuromuscul Disord, 2010), Drac, H. et al. (J Appl Genet, 2011), Murphy, S. M. et al. (Neuromuscul Disord, 2011), Sevilla, T. et al. (J Peripher Nerv Syst, 2011), Ramirez, J. D. et al. (Pain, 2012), Miller, L. J. et al. (J Peripher Nerv Syst, 2012), Patzko, A. et al. (Brain, 2012), Dacci, P. et al. (J Peripher Nerv Syst, 2012), Speevak, M. D. et al. (Eur J Med Genet, 2013), Luigetti, M. et al. (Clin Neurol Neurosurg, 2016), Roa, B. B. et al. (Am J Med Sci, 1993), Lebo, R. V. et al. (Am J Med Genet, 1993), Stogbauer, F. et al. (Neurosci Lett, 1998)
|
Parkinson Disease
|
Veech, G. A. et al. (J Neurosci Res, 2000), Brill, L. B. 2nd et al. (Exp Neurol, 2003), Esteves, A. R. et al. (Mitochondrion, 2008), Duka, T. et al. (FASEB J, 2009), Kim, S. Y. et al. (Neurochem Int, 2010), Guella, I. et al. (Neurobiol Aging, 2011), Piao, Y. et al. (Biochim Biophys Acta, 2012), Dagda, R. K. et al. (Int J Mol Sci, 2013), Zhang, X. M. et al. (Acta Pharmacol Sin, 2014), Choi, D. C. et al. (J Neurosci, 2014)
|
Parkinsonian Disorders
|
|
Peripheral demyelinating neuropathy
|
Keller, M. P. et al. (Brain Pathol, 1999), Marques, W. Jr et al. (J Neurol, 1999), Chance, P. F. (Ann N Y Acad Sci, 1999), Fabrizi, G. M. et al. (Acta Neuropathol, 2000), Shy, M. E. et al. (Brain, 2004), Eggers, S. D. et al. (Muscle Nerve, 2004), Szabo, A. et al. (Neuromuscul Disord, 2005), Chance, P. F. (Neuromolecular Med, 2006), Li, J. et al. (J Comp Neurol, 2006), Laura, M. et al. (J Neurol Neurosurg Psychiatry, 2007), Grandis, M. et al. (Hum Mol Genet, 2008), Magot, A. et al. (Muscle Nerve, 2008), Murphy, S. M. et al. (Neuromuscul Disord, 2011), Iida, M. et al. (Neuromuscul Disord, 2012), Chance, P. F. et al. (Hum Mol Genet, 1994), Meijerink, P. H. et al. (Ann Neurol, 1996), Marrosu, M. G. et al. (Neurology, 1998)
|
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
Carenini, S. et al. (J Cell Biol, 2001), Miyamoto, K. et al. (Eur J Immunol, 2003)
|
Peripheral motor neuropathy
|
Marttila, M. et al. (J Neurol, 2012)
|
Peripheral Neuropathy
|
Timmerman, V. et al. (Neurology, 1999), Martini, R. (Ann N Y Acad Sci, 1999), Ekici, A. B. et al. (BMC Cell Biol, 2002), Leal, A. et al. (Neurogenetics, 2003), Santoro, L. et al. (J Neurol Neurosurg Psychiatry, 2004), Runker, A. E. et al. (J Cell Biol, 2004), Khajavi, M. et al. (Am J Hum Genet, 2005), Shy, M. E. (J Neurol Sci, 2006), Steck, A. J. et al. (J Peripher Nerv Syst, 2006), Gerding, W. M. et al. (Neuromuscul Disord, 2009), Su, M. A. et al. (J Immunol, 2012), Dacci, P. et al. (J Peripher Nerv Syst, 2012), Sanmaneechai, O. et al. (Brain, 2015), Roa, B. B. et al. (Hum Mutat, 1996), Murakami, T. et al. (Medicine (Baltimore), 1996), Timmerman, V. et al. (J Med Genet, 1997)
|
Polyneuropathy
|
Donaghy, M. et al. (J Neurol Neurosurg Psychiatry, 2000), Kvarnstrom, M. et al. (Clin Exp Immunol, 2002), Burns, T. M. et al. (Neuromuscul Disord, 2006), Laura, M. et al. (J Neurol Neurosurg Psychiatry, 2007), Lee, Y. C. et al. (Neurology, 2008), Kleffner, I. et al. (J Neurol, 2010)
|
Sciatic Neuropathy
|
Zhang, X. et al. (Mol Med Rep, 2013)
|
Sensorimotor neuropathy
|
Richards, S. et al. (Genet Med, 2015)
|
Sensory neuropathy
|
|