Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease von 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.

Volltext

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies von Warner, Laura E, Mancias, Pedro, Butler, Ian J, McDonald, Craig M, Keppen, Laura, Koob, K. Gene, Lupski, James R

Volltext

Laminin α2 muscular dystrophy: Genotype/phenotype studies of 22 patients von PEGORARO, E, MARKS, H, STELLA, A, SCAVINA, M, MUNK, R. L, SERVIDEI, S, BÖNNEMANN, C. C, BERTORINI, T, ACSADI, G, THOMPSON, C. E, GAGNON, D, HOGANSON, G, GARCIA, C. A, CARVER, V, ZIMMERMAN, R. A, HOFFMAN, E. P, CRAWFORD, T, MANCIAS, P, CONNOLLY, A. M, FANIN, M, MARTINELLO, F, TREVISAN, C. P, ANGELINI, C

Volltext

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations von 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

Volltext

Collapse of mitochondria-associated membrane as common pathomechanism for amyotrophic lateral sclerosis von Watanabe, S., Ilieva, H., Tamada, H., Nomura, H., Komine, O., Endo, F., Jin, S., Mancias, P., Kiyama, H., Yamanaka, K.

Volltext

MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 von 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

Volltext

Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation von 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.

Volltext

Phosphoglucomutase (PGM 1) Deficiency: A Novel Defect of Muscle Glycogen Degradation and Synthesis (P07.200) von Haller, R., Heinicke, K., Newby, M., Wyrick, P., Dimitrov, I., Mancias, P., Cohen, J.

Volltext

SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation von 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.

Volltext

CMT4A: Identification of a Hispanic GDAP1 founder mutation von 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.

Volltext

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy von 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

Volltext

Combined brachial plexus injury and root avulsion after complicated delivery von Mancias, P, Slopis, J M, Yeakley, J W, Vriesendorp, F J

Volltext

The utility of somatosensory evoked potentials in Chiari malformation and syringomyelia in children von Fletcher, S A, Butler, I J, Mancias, P, Dreyer, C

Volltext

Does Short‐Term Antiepileptic Drug Treatment in Children Result in Cognitive or Behavioral Changes? von Williams, Jane, Bates, Stephen, Griebel, May L., Lange, Bernadette, Mancias, Pedro, Pihoker, Catherine M., Dykman, Roscoe

Volltext

POLIOMYELITIS-LIKE SYNDROME IN A CHILD WITH WEST NILE VIRUS INFECTION von Heresi, Gloria P, Mancias, Pedro, Mazur, Lynette J, Butler, Ian J, Murphy, James R, Cleary, Thomas G

Volltext

CT and ultrasound imaging of retropharyngeal abscesses in children von Glasier, CM, Stark, JE, Jacobs, RF, Mancias, P, Leithiser, RE, Jr, Seibert, RW, Seibert, JJ

Volltext

Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy von Pegoraro, Elena, Cianno, Brad Di, Hoffman, Eric P., Mancias, Pedro, Swerdlow, Steven H., Raikow, Radmila B., Garcia, Carlos, Marks, Harold, Crawford, Thomas, Carver, Virginia

Volltext

Polymyositis associated with chronic myelogenous leukemia von PAGLIARO, L. C, MANCIAS, P

Volltext

Brain Plasticity for Sensory and Linguistic Functions: A Functional Imaging Study Using Magnetoencephalography With Children and Young Adults von Papanicolaou, Andrew C., Simos, Panagiotis G., Breier, Joshua I., Wheless, James W., Mancias, Pedro, Baumgartner, James E., Maggio, William W., Gormley, William, Constantinou, Jules E.C., Butler, Ian I.

Volltext

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2 von Verhoeven, Kristien, Claeys, Kristl, Züchner, S, Schröder, M.J, Weis, J, Ceuterick, C, Jordanova, A, Nelis, E, De Vriendt, E, Van Hul, M, Seeman, P, Mazanec, R, Saifi, G.M, Szigeti, K, Mancias, P, Butler, I.J, Kochanski, A, Ryniewicz, B, de Bleecker, J, Van den Berg, P, Verellen, C, Van Coster, R, Goemans, N, Auer-Grumbach, M, Robberecht, W, Rasic, V.M, Nevo, Y, Tournev, I, Guergueltcheva, V, Roelens, F, Vieregge, P, Vinci, P, Moreno, M.T, Christen, H.-J, Shy, M.E, Lupski, J.R, Vance, J.M, De Jonghe, P, Timmerman, V

Volltext