Search Results - "MOZAFFAR, T"

Seropositivity for NT5c1A antibody in sporadic inclusion body myositis predicts more severe motor, bulbar and respiratory involvement by Goyal, N A, Cash, T M, Alam, U, Enam, S, Tierney, P, Araujo, N, Mozaffar, F H, Pestronk, A, Mozaffar, T

“…ObjectivesTo explore phenotypic differences between individuals with sporadic inclusion body myositis (sIBM) who are seropositive for the NT5c1A antibody…”
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Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy by Al‐Obeidi, E., Al‐Tahan, S., Surampalli, A., Goyal, N., Wang, A.K., Hermann, A., Omizo, M., Smith, C., Mozaffar, T., Kimonis, V.

“…Mutations in valosin‐containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant…”
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Activation of the Wnt/β-catenin signaling cascade after traumatic nerve injury by Kurimoto, S, Jung, J, Tapadia, M, Lengfeld, J, Agalliu, D, Waterman, M, Mozaffar, T, Gupta, R

“…Highlights • Wnt3a and β-catenin are associated with the neuromuscular junction destabilization following traumatic nerve injury. • Wnt/β-catenin signaling…”
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Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice by Yin, H Z, Nalbandian, A, Hsu, C-I, Li, S, Llewellyn, K J, Mozaffar, T, Kimonis, V E, Weiss, J H

“…Pathological features of amyotrophic lateral sclerosis (ALS) include, in addition to selective motor neuron (MN) degeneration, the occurrence of protein…”
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Distal myopathy with associated hemiatrophy by Goyal, N, Nayyar, S, Mozaffar, T

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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia by Mehta, SG, Khare, M, Ramani, R, Watts, GDJ, Simon, M, Osann, KE, Donkervoort, S, Dec, E, Nalbandian, A, Platt, J, Pasquali, M, Wang, A, Mozaffar, T, Smith, CD, Kimonis, VE

“…Valosin containing protein (VCP) disease associated with inclusion body myopathy, Paget disease of the bone and frontotemporal dementia is a progressive…”
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Unique myopathy presenting in adulthood with proximal muscle weakness and respiratory insufficiency by Goyal, N, Waldrop, M, Mozaffar, T

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Sporadic inclusion body myositis misdiagnosed as granulomatous myositis by Mozaffar, T, Lavian, M, Goyal, N

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Phase II screening trial of lithium carbonate in amyotrophic lateral sclerosis: Examining a more efficient trial design by MILLER, R. G, MOORE, D. H, MCVEY, A. L, MOZAFFAR, T, FLORENCE, J. M, PESTRONK, A, ROSS, M, SIMPSON, E. P, APPEL, S. H, FORSHEW, D. A, KATZ, J. S, BAROHN, R. J, VALAN, M, BROMBERG, M. B, GOSLIN, K. L, GRAVES, M. C, MCCLUSKEY, L. F

“…To use a historical placebo control design to determine whether lithium carbonate slows progression of amyotrophic lateral sclerosis (ALS). A phase II trial…”
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02INV Emerging cellular Immunotherapies in acquired muscle disorders by Mozaffar, T.

“…Cellular therapy has become a standard in the armemanterium of neoplastic disorders and routinely used in treatment of multiple myeloma and of leukemias. Use…”
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Myopathy with anti-Jo-1 antibodies: pathology in perimysium and neighbouring muscle fibres by Mozaffar, Tahseen, Pestronk, Alan

“…OBJECTIVE To evaluate muscle pathology and clinical characteristics in patients with a myopathy and serum antibodies to the Jo-1 antigen (histidyl t-RNA…”
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Lung function tests (MIP, MEP, FVC, VC) predict ventilation and wheelchair use in late-onset Pompe disease by Roberts, M, Mozaffar, T, Young, P, Johnson, E, Quartel, A, Berger, K

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Utility of respiratory database in a tertiary neuromuscular clinic: A 10-year experience by Mozaffar, T, Goyal, N, Cash, T, Rai, S, Wang, A, Chui, L

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Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study by Tarnopolsky, M, Mozaffar, T, Behin, A, Gidaro, T, Pogoryelova, O, Connor, E, Koutsoukos, T, Tourney, I, Lochmuller, H

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Clinical summary of eight unrelated individuals with GMPPB mutations by Mathews, K, Jensen, B, Saade, D, Willer, T, Cox, M, Mozaffar, T, Scavina, M, Winder, T, Campbell, K, Moore, S

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PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome by Donaldson, M R, Jensen, J L, Tristani-Firouzi, M, Tawil, R, Bendahhou, S, Suarez, W A, Cobo, A M, Poza, J J, Behr, E, Wagstaff, J, Szepetowski, P, Pereira, S, Mozaffar, T, Escolar, D M, Fu, Y-H, Ptácek, L J

“…Mutations in KCNJ2, the gene encoding the inward-rectifying K+ channel Kir2.1, cause the cardiac, skeletal muscle, and developmental phenotypes of…”
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Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE by Maselli, RA, Arredondo, J, Cagney, O, Mozaffar, T, Skinner, S, Yousif, S, Davis, RR, Gregg, JP, Sivak, M, Konia, TH, Thomas, K, Wollmann, RL

“…Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL. Congenital myasthenic…”
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An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease by Schoser, B, Byrne, B, Eyskens, F, Hiwot, T, Hughes, D, Kissel, J, Mengel, E, Mozaffar, T, Pestronk, A, Roberts, M, Sivakumar, K, Statland, J, Young, P, Heusner, C, Dummer, W

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T.P.24 by Thurberg, B.L, van der Ploeg, A, Kissel, J.T, Schoser, B, Pestronk, A, Barohn, R.J, Goker-Alpan, O, Mozaffar, T, Pena, L.D.M, Simmons, Z, Straub, V, Young, P, Bjartmar, C

“…Clearance of lysosomal glycogen has been shown after treatment with ERT (alglucosidase alfa) in LOPD patients. However, there is little data assessing glycogen…”
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Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy by Bannwarth, S, Procaccio, V, Rouzier, C, Fragaki, K, Poole, J, Chabrol, B, Desnuelle, C, Pouget, J, Azulay, J P, Attarian, S, Pellissier, J F, Gargus, J J, Abdenur, J E, Mozaffar, T, Calvas, P, Labauge, P, Pages, M, Wallace, D C, Lambert, J C, Paquis-Flucklinger, V

“…Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a…”
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