Search Results - "Saifi, G M"

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect by Claramunt, R, Pedrola, L, Sevilla, T, López de Munain, A, Berciano, J, Cuesta, A, Sánchez-Navarro, B, Millán, J M, Saifi, G M, Lupski, J R, Vílchez, J J, Espinós, C, Palau, F

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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation by Szigeti, K, Wong, L-J C, Perng, C-L, Saifi, G M, Eldin, K, Adesina, A M, Cass, D L, Hirano, M, Lupski, J R, Scaglia, F

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase (TP) deficiency,…”
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An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures by STRAUSSBERG, R, BASEL-VANAGAITE, L, LUPSKI, J. R, DELAGUE, V, MEGARBANE, A, RICHTER, A, LESHINSKY, E, BERKOVIC, S. F, KIVITY, S, DABBY, R, CIRAK, S, NURNBERG, P, VOIT, T, MAHAJNAH, M, INBAR, D, SAIFI, G. M

“…The authors describe three siblings born to consanguineous parents with early onset ataxia, dysarthria, myoclonic, generalized tonic clonic seizures, upward…”
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Increased blood-brain barrier permeability with thymidine phosphorylase deficiency by Szigeti, K., Sule, N., Adesina, A. M., Armstrong, D. L., Saifi, G. M., Bonilla, E., Hirano, M., Lupski, J. R.

“…Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystemic disorder caused by thymidine phosphorylase deficiency. Whereas…”
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Mutation of TDP1 , encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy by Lupski, James R, Takashima, Hiroshi, Boerkoel, Cornelius F, John, Joy, Saifi, Gulam Mustafa, Salih, Mustafa A.M, Armstrong, Dawna, Mao, Yuxin, Quiocho, Florante A, Roa, Benjamin B, Nakagawa, Masanori, Stockton, David W

“…Tyrosyl-DNA phosphodiesterase 1 (TDP1) repairs covalently bound topoisomerase I-DNA complexes and is essential for preventing the formation of double-strand…”
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Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene by Kabzińska, D, Saifi, G M, Drac, H, Rowińska-Marcińska, K, Hausmanowa-Petrusewicz, I, Kochański, A, Lupski, J R

“…Charcot-Marie-Tooth type 4C4 disease (CMT4C4) is an early onset, autosomal recessive neuropathy with hoarseness caused by mutations in the GDAP1 gene which…”
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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome by WEIMIN BI, MUSTAFA SAIFI, G, SHAW, Christine J, WALZ, Katherina, FONSECA, Patricia, WILSON, Meredith, POTOCKI, Lorraine, LUPSKI, James R

“…Smith-Magenis syndrome (SMS) is a mental retardation/multiple congenital anomalies disorder associated with a heterozygous approximately 4-Mb deletion in…”
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An apparent excess of sex– and reproduction–related genes on the human X chromosome by Saifl, G. Mustafa, Chandra, H. Sharat

“…), sexual differentiation (e.g…”
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Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1 by Weinfeld, Michael, Helleday, Thomas, Lupski, James R, Caldecott, Keith W, El-Khamisy, Sherif F, Johansson, Fredrik, Saifi, Gulam M

“…Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is a neurodegenerative disease that results from mutation of tyrosyl phosphodiesterase 1 (TDP1). In…”
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 by 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

“…Mutations in mitofusin 2 (MFN2) have been reported in Charcot–Marie–Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened…”
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SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation by 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.

“…Charcot‐Marie‐Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies characterized by progressive…”
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T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy by Shy, Michael E., Scavina, Mena T., Clark, Alisa, Krajewski, Karen M., Li, Jun, Kamholz, John, Kolodny, Edwin, Szigeti, Kinga, Fischer, Richard A., Mustafa Saifi, Gulam, Scherer, Steven S., Lupski, James R.

“…Objective To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal…”
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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation by Szigeti, Kinga, Saifi, Gulam Mustafa, Armstrong, Dawna, Belmont, John W., Miller, Geoffrey, Lupski, James R.

“…We report a case of congenital hypomyelination associated with cranial nerve dysfunction, respiratory failure, and hypertrophic cardiomyopathy confounding the…”
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Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies by Saifi, Gulam Mustafa, Szigeti, Kinga, Snipes, G. Jackson, Garcia, Carlos A., Lupski, James R.

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sY116, a human Y-linked polymorphic STS by Saifi, G. Mustafa, Veitia, Reiner, El Khil, Houssein Khodjet, Barbaux, Sandrine, Tilak, Preetha, Thomas, I. Manorama, Fellous, Marc

“…During a study of deletions of Y-chromosomal DNA in infertile males, sY116, a Y-linked STS, showed different electrophoretic mobilities in three males, two…”
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