Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease
Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J.‐J., Butler, I. J., Mancias, P., Papasozomenos, S. Ch, Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R., Timmerman, V.
Published in Brain (London, England : 1878) (01.03.2003)
Published in Brain (London, England : 1878) (01.03.2003)
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Collapse of mitochondria-associated membrane as common pathomechanism for amyotrophic lateral sclerosis
Watanabe, S., Ilieva, H., Tamada, H., Nomura, H., Komine, O., Endo, F., Jin, S., Mancias, P., Kiyama, H., Yamanaka, K.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Milic Rasic, Vedrana, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, Timmerman, Vincent
Published in Brain (London, England : 1878) (01.08.2006)
Published in Brain (London, England : 1878) (01.08.2006)
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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
Lupski, James R, Inoue, Ken, Khajavi, Mehrdad, Ohyama, Tomoko, Hirabayashi, Shin-ichi, Wilson, John, Reggin, James D, Mancias, Pedro, Butler, Ian J, Wilkinson, Miles F, Wegner, Michael
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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CT and ultrasound imaging of retropharyngeal abscesses in children
Glasier, CM, Stark, JE, Jacobs, RF, Mancias, P, Leithiser, RE, Jr, Seibert, RW, Seibert, JJ
Published in American journal of neuroradiology : AJNR (01.07.1992)
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Published in American journal of neuroradiology : AJNR (01.07.1992)
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Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
Boerkoel, Cornelius F., Takashima, Hiroshi, Garcia, Carlos A., Olney, Richard K., Johnson, John, Berry, Katherine, Russo, Paul, Kennedy, Shelley, Teebi, Ahmad S., Scavina, Mena, Williams, Lowell L., Mancias, Pedro, Butler, Ian J., Krajewski, Karen, Shy, Michael, Lupski, James R.
Published in Annals of neurology (01.02.2002)
Published in Annals of neurology (01.02.2002)
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SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation
Saifi, Gulam Mustafa, Szigeti, Kinga, Wiszniewski, Wojciech, Shy, Michael E., Krajewski, Karen, Hausmanowa‐Petrusewicz, Irena, Kochanski, Andrzej, Reeser, Suzanne, Mancias, Pedro, Butler, Ian, Lupski, James R.
Published in Human mutation (01.04.2005)
Published in Human mutation (01.04.2005)
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The utility of somatosensory evoked potentials in Chiari malformation and syringomyelia in children
Fletcher, S A, Butler, I J, Mancias, P, Dreyer, C
Published in British journal of neurosurgery (01.10.2007)
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Published in British journal of neurosurgery (01.10.2007)
Journal Article
CMT4A: Identification of a Hispanic GDAP1 founder mutation
Boerkoel, Cornelius F., Takashima, Hiroshi, Nakagawa, Masanori, Izumo, Shuji, Armstrong, Dawna, Butler, Ian, Mancias, Pedro, Papasozomenos, Sozos C. H., Stern, Lawrence Z., Lupski, James R.
Published in Annals of neurology (01.03.2003)
Published in Annals of neurology (01.03.2003)
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Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy
Shy, Michael E., Hobson, Grace, Jain, Manisha, Boespflug-Tanguy, Odile, Garbern, James, Sperle, Karen, Li, Wen, Gow, Alex, Rodriguez, Diana, Bertini, Enrico, Mancias, Pedro, Krajewski, Karen, Lewis, Richard, Kamholz, John
Published in Annals of neurology (01.03.2003)
Published in Annals of neurology (01.03.2003)
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Journal Article
Does Short‐Term Antiepileptic Drug Treatment in Children Result in Cognitive or Behavioral Changes?
Williams, Jane, Bates, Stephen, Griebel, May L., Lange, Bernadette, Mancias, Pedro, Pihoker, Catherine M., Dykman, Roscoe
Published in Epilepsia (Copenhagen) (01.10.1998)
Published in Epilepsia (Copenhagen) (01.10.1998)
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Brain plasticity for sensory and linguistic functions: a functional imaging study using magnetoencephalography with children and young adults
Papanicolaou, A C, Simos, P G, Breier, J I, Wheless, J W, Mancias, P, Baumgartner, J E, Maggio, W W, Gormley, W, Constantinou, J E, Butler, I I
Published in Journal of child neurology (01.04.2001)
Published in Journal of child neurology (01.04.2001)
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Human bHLH transcription factor gene Myogenin (MYOG) : Genomic sequence and negative mutation analysis in patients with severe congenital myopathies
TSENG, B. S, CAVIN, S. T, HOFFMAN, E. P, IANNACCONE, S. T, MANCIAS, P, BOOTH, F. W, BUTLER, I. J
Published in Genomics (San Diego, Calif.) (01.05.1999)
Published in Genomics (San Diego, Calif.) (01.05.1999)
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Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy
Pegoraro, E, Mancias, P, Swerdlow, S H, Raikow, R B, Garcia, C, Marks, H, Crawford, T, Carver, V, Di Cianno, B, Hoffman, E P
Published in Annals of neurology (01.11.1996)
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Published in Annals of neurology (01.11.1996)
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