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1. Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Author

Bernert, G., Knipp, F., Buyse, G.M., Goemans, N., Van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J.-M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M.G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Straathof, C.S.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., Meier, Thomas, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Mayer, Oscar H., and Buyse, Gunnar M.

Published
2017
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2. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

Author

Oliveira, JRM, Spiteri, E, Sobrido, MJ, Hopfer, S, Klepper, J, Voit, T, Gilbert, J, Wszolek, ZK, Calne, DB, Stoessl, AJ, Hutton, M, Manyam, BV, Boller, F, Baquero, M, and Geschwind, DH

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Rare Diseases, Neurodegenerative, Genetics, Neurological, Basal Ganglia Diseases, Calcinosis, Chromosomes, Human, Pair 14, Female, Genes, Dominant, Genetic Heterogeneity, Humans, Lod Score, Male, Neurologic Examination, Pedigree, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

Familial idiopathic basal ganglia calcification (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia brain calcifications, parkinsonism, and neuropsychiatric symptoms. The authors examined six families for linkage to the previously identified genetic locus (IBGC1) located on chromosome 14q. The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC.

Published
2004

3. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC

Author

Avila-Smirnow, D., Gueneau, L., Batonnet-Pichon, S., Delort, F., Bécane, H.-M., Claeys, K., Beuvin, M., Goudeau, B., Jais, J.-P., Nelson, I., Richard, P., Ben Yaou, R., Romero, N.B., Wahbi, K., Mathis, S., Voit, T., Furst, D., van der Ven, P., Gil, R., Vicart, P., Fardeau, M., Bonne, G., and Behin, A.

Published
2016
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4. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Author

Bernert, G., Knipp, F., Buyse, G.M., Goemans, N., van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J.-M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M.G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Straathof, C.S.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., McDonald, Craig M., Meier, Thomas, Voit, Thomas, Schara, Ulrike, Straathof, Chiara S.M., D'Angelo, M. Grazia, Bernert, Günther, Cuisset, Jean-Marie, Finkel, Richard S., Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, and Buyse, Gunnar M.

Published
2016
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5. Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.

Author

Chandler, D, Angelicheva, D, Heather, L, Gooding, R, Gresham, D, Yanakiev, P, de Jonge, R, Baas, F, Dye, D, Karagyozov, L, Savov, A, Blechschmidt, K, Keats, B, Thomas, PK, King, RH, Starr, A, Nikolova, A, Colomer, J, Ishpekova, B, Tournev, I, Urtizberea, JA, Merlini, L, Butinar, D, Chabrol, B, Voit, T, Baethmann, M, Nedkova, V, Corches, A, and Kalaydjieva, L

Subjects
Humans, Disease Progression, Chromosome Mapping, Pedigree, DNA Mutational Analysis, Genotype, Haplotypes, Phenotype, Adolescent, Adult, Middle Aged, Child, Europe, Female, Male, Hereditary Sensory and Motor Neuropathy, Roma, hereditary motor and sensory neuropathy type Lom, genetic mapping, gypsy families, Neurology & Neurosurgery, Clinical Sciences, Neurosciences, Medical Physiology
Abstract

Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have identified a number of historical recombinations resulting from the spread of the hereditary motor and sensory neuropathy type Lom gene through Europe with the migration and isolation of Gypsy groups. Recombination mapping and the minimal region of homozygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb.

Published
2000

7. VP.24 T Cell-mediated immune response to dystrophin in Duchenne muscular dystrophy - A natural history study

Author

Anthony, K., primary, Ala, P., additional, Catapano, F., additional, Meng, J., additional, Domingos, J., additional, Perry, M., additional, Ricotti, V., additional, Maresh, K., additional, Phillips, L., additional, Straub, V., additional, Guglieri, M., additional, Servais, L., additional, Seferian, A., additional, De Lucia, S., additional, de Groot, I., additional, Krom, Y., additional, Verschuuren, J., additional, Niks, E., additional, Voit, T., additional, Morgan, J., additional, and Muntoni, F., additional

Published
2022
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8. Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Author

Mazzone, E., De Sanctis, R., Fanelli, L., Bianco, F., Main, M., van den Hauwe, M., Ash, M., de Vries, R., Fagoaga Mata, J., Schaefer, K., D’Amico, A., Colia, G., Palermo, C., Scoto, M., Mayhew, A., Eagle, M., Servais, L., Vigo, M., Febrer, A., Korinthenberg, R., Jeukens, M., de Viesser, M., Totoescu, A., Voit, T., Bushby, K., Muntoni, F., Goemans, N., Bertini, E., Pane, M., and Mercuri, E.

Published
2014
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9. Muskeldystrophien

Author

Voit, T., Lentze, Michael J., editor, Schulte, Franz J., editor, Schaub, Jürgen, editor, and Spranger, Jürgen, editor

Published
2007
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10. Stoffwechselmyopathien

Author

Voit, T., Lentze, Michael J., editor, Schulte, Franz J., editor, Schaub, Jürgen, editor, and Spranger, Jürgen, editor

Published
2007
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18. Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

Author

McDonald, Craig M, primary, Muntoni, Francesco, additional, Penematsa, Vinay, additional, Jiang, Joel, additional, Kristensen, Allan, additional, Bibbiani, Francesco, additional, Goodwin, Elizabeth, additional, Gordish-Dressman, Heather, additional, Morgenroth, Lauren, additional, Werner, Christian, additional, Li, James, additional, Able, Richard, additional, Trifillis, Panayiota, additional, Tulinius, Már, additional, Ryan, M, additional, Jones, K, additional, Goemans, N, additional, Campbell, C, additional, Mah, JK, additional, Selby, K, additional, Chabrol, B, additional, Pereon, Y, additional, Voit, T, additional, Gidaro, T, additional, Schara, U, additional, Kirschner, JB, additional, Nevo, Y, additional, Comi, GP, additional, Bertini, E, additional, Mercuri, E, additional, Colomer, J, additional, Nascimento, A, additional, Vilchez, JJ, additional, Tulinius, M, additional, Sejersen, T, additional, Muntoni, F, additional, Bushby, K, additional, and Guglieri, M, additional

Published
2022
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19. Spinale Muskelatrophie

Author

Voit, T., Lentze, Michael J., editor, Schulte, Franz J., editor, Schaub, Jürgen, editor, and Spranger, Jürgen, editor

Published
2007
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21. Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials

Author

McDonald CM, A238., Sajeev, G, Yao, Z, Mcdonnell, E, Elfring, G, Souza, M, Peltz, Sw, Darras, Bt, Shieh, Pb, Cox, Da, Landry, J, Signorovitch, J, Campbell, C, Torricelli, Re, Finkel, Rs, Flanigan, Km, Goemans, N, Heydemann, P, Kaminska, A, Kirschner, J, Muntoni, F, Osorio, An, Schara, U, Sejersen, T, Sweeney, Hl, Topaloglu, H, Tulinius, M, Vilchez, Jj, Voit, T, Wong, B, Alfano, Ln, Eagle, M, James, Mk, Lowes, L, Mayhew, A, Mazzone, Es, Nelson, L, Rose, Kj, Abdel-Hamid, Hz, Apkon, Sd, Barohn, Rj, Bertini, E, Bloetzer, C, de Vaud LC, Butterfield, Rj, Chabrol, B, Chae, Jh, Jongno-Gu, Dr, Comi, Gp, Dastgir, J, Desguerre, I, Escobar, Rg, Finanger, E, Guglieri, M, Hughes, I, Iannaccone, St, Jones, Kj, Karachunski, P, Kudr, M, Lotze, T, Mah, Jk, Mathews, K, Nevo, Y, Parsons, J, Péréon, Y, de Queiroz Campos Araujo AP, Renfroe, Jb, de Mbd, R, Ryan, M, Selby, K, Tennekoon, G, Vita, G, Abdel-Hamid, H, Apkon, S, Barohn, R, Belousova, E, Brandsema, J, Bruno, C, Burnette, W, Butterfield, R, Byrne, B, Carlo, J, Chandratre, S, Comi, G, Connolly, A, De Groot, I, Deconinck, N, Dooley, J, Dubrovsky, A, Durigneux, J, Finkel, R, Frank, Lm, Harper, A, Hattori, A, Herguner, O, Iannaccone, S, Janas, J, Jong, Yj, Komaki, H, Kuntz, N, Lee, Wt, Leung, E, Mah, J, Cm, M, Mercuri, E, Mcmillan, H, Mueller-Felber, W, Lopez de Munain, A, Nakamura, A, Niks, E, Ogata, K, Pascual, S, Pegoraro, E, Pereon, Y, Renfroe, B, Sanka, Rb, Schallner, J, Sendra, Ii, Servais, L, Smith, E, Sparks, S, Victor, R, Wicklund, M, Wilichoswki, E, and Wong, B.

Subjects
Male, Duchenne muscular dystrophy, 0301 basic medicine, medicine.medical_specialty, Physiology, medicine.drug_class, Prednisolone, Anti-Inflammatory Agents, Walking, 030105 genetics & heredity, Placebo, prednisone/prednisolone, ambulatory function, deflazacort, meta-analysis, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Pregnenediones, Prednisone, Physiology (medical), Internal medicine, Humans, Multicenter Studies as Topic, Medicine, Child, Clinical Research Articles, Randomized Controlled Trials as Topic, Clinical Research Article, business.industry, medicine.disease, Confidence interval, Muscular Dystrophy, Duchenne, Deflazacort, Treatment Outcome, meta‐analysis, Ambulatory, Disease Progression, Corticosteroid, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Introduction In this study we characterized disease progression over 48 weeks among boys receiving deflazacort vs prednisone/prednisolone placebo arm treatment in two recent Duchenne muscular dystrophy (DMD) clinical trials. Methods Ambulatory boys with DMD receiving placebo in the phase 3 ataluren (N = 115) and tadalafil (N = 116) trials were included. The trials required at least 6 months of prior corticosteroid use and stable baseline dosing. Associations between corticosteroid use and 48‐week changes in ambulatory function were estimated using mixed models. Adjusted differences between corticosteroid groups were pooled in a meta‐analysis. Results In the meta‐analysis, deflazacort‐treated patients vs prednisone/prednisolone‐treated patients experienced, on average, lower declines of 28.3 meters on 6‐minute walk distance (95% confidence interval [CI], 5.7, 50.9; 2.9 seconds on rise from supine [95% CI, 0.9, 4.9 seconds]; 2.3 seconds on 4‐stair climb [95% CI, 0.5, 4.1 seconds]; and 2.9 [95% CI, 0.1, 5.8] points on the North Star Ambulatory Assessment linearized score). Discussion Deflazacort‐treated patients experienced significantly lower functional decline over 48 weeks.

Published
2019

22. DMD – ANIMAL MODELS

Author

Hong, A. Vu, primary, Amor, F., additional, Corre, G., additional, Sanson, M., additional, Suel, L., additional, Blaie, S., additional, Servais, L., additional, Voit, T., additional, Richard, I., additional, and Israeli, D., additional

Published
2021
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23. Diagnostic criteria for sarcopenia and physical performance

Author

Bijlsma, A. Y., Meskers, C. G. M., van den Eshof, N., Westendorp, R. G., Sipilä, S., Stenroth, L., Sillanpää, E., McPhee, J. S., Jones, D. A., Narici, M. V., Gapeyeva, H., Pääsuke, M., Voit, T., Barnouin, Y., Hogrel, J. Y., Butler-Browne, G., and Maier, A. B.

Published
2014
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24. Diagnostic measures for sarcopenia and bone mineral density

Author

Bijlsma, A. Y., Meskers, M. C. G., Molendijk, M., Westendorp, R. G. J., Sipilä, S., Stenroth, L., Sillanpää, E., McPhee, J. S., Jones, D. A., Narici, M., Gapeyeva, H., Pääsuke, M., Seppet, E., Voit, T., Barnouin, Y., Hogrel, J. Y., Butler-Browne, G., and Maier, A. B.

Published
2013
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28. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June–1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France

Author

Mercuri, E., Mayhew, A., Muntoni, F., Messina, S., Straub, V., Van Ommen, G.J., Voit, T., Bertini, E., and Bushby, K.

Published
2008
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30. Myasthenia gravis

Author

Voit, T., Lentze, Michael J., editor, Schulte, Franz J., editor, Schaub, Jürgen, editor, and Spranger, Jürgen, editor

Published
2007
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31. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy

Author

Campbell, C, Barohn, RJ, Bertini, E, Chabrol, B, Comi, GP, Darras, BT, Finkel, RS, Flanigan, KM, Goemans, N, Iannaccone, ST, Jones, KJ, Kirschner, J, Mah, JK, Mathews, KD, McDonald, CM, Mercuri, E, Nevo, Y, Pereon, Y, Ben Renfroe, J, Ryan, MM, Sampson, JB, Schara, U, Sejersen, T, Selby, K, Tulinius, M, VILCHEZ, JJ, Voit, T, Wei, LJ, Wong, BL, Elfring, G, Souza, M, McIntosh, J, Trifillis, P, Peltz, SW, Muntoni, F, PTC124-GD-007-Study Grp, ACT DMD Study Grp, and Clinical Evaluator Training Grp

Subjects
Duchenne muscular dystrophy, 6-minute walk distance, nonsense mutation Duchenne muscular dystrophy, meta-analyses, efficacy, randomized controlled trials, ataluren
Abstract

Aim:Assess the totality of efficacy evidence for ataluren in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).Materials & methods:Data from the two completed randomized controlled trials (ClinicalTrials.gov: NCT00592553; NCT01826487) of ataluren in nmDMD were combined to examine the intent-to-treat (ITT) populations and two patient subgroups (baseline 6-min walk distance [6MWD] >= 300-= 300-= 300

Published
2020

32. Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy

Author

Servais, L., Straathof, C.S.M., Schara, U., Klein, A., Leinonen, M., Hasham, S., Meier, T., Waele, L. de, Gordish-Dressman, H., McDonald, C.M., Mayer, O.H., Voit, T., Mercuri, E., Buyse, G.M., and SYROS CINRG DNHS Investigators

Subjects
Male, 0301 basic medicine, Vital capacity, Real world data, Ubiquinone, Vital Capacity, Medizin, Antioxidants, DOUBLE-BLIND, 0302 clinical medicine, Outcome Assessment, Health Care, Clinical endpoint, Idebenone, Respiratory function, Child, 610 Medicine & health, Genetics (clinical), Respiratory Function Tests, Neurology, CAREGIVERS, Life Sciences & Biomedicine, medicine.drug, Adult, Duchenne muscular dystrophy, medicine.medical_specialty, Adolescent, Clinical Neurology, Young Adult, 03 medical and health sciences, FEV1/FVC ratio, Internal medicine, Forced vital capacity, MANAGEMENT, medicine, Humans, QUALITY, GLUCOCORTICOIDS, Adverse effect, Retrospective Studies, Science & Technology, business.industry, Neurosciences, PULMONARY-FUNCTION, Retrospective cohort study, Respiration Disorders, Muscular Dystrophy, Duchenne, 030104 developmental biology, Expanded access, Pediatrics, Perinatology and Child Health, Neurosciences & Neurology, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

Decline in respiratory function in patients with DMD starts during early teenage years and leads to early morbidity and mortality. Published evidence of efficacy for idebenone on respiratory function outcomes is currently limited to 12 months of follow-up time. Here we report data collected as retrospective cohort study (SYROS) from 18 DMD patients not using glucocorticoids who were treated with idebenone (900 mg/day) under Expanded Access Programs (EAPs). The objective was to assess the long-term respiratory function evolution for periods On-Idebenone compared to periods Off-Idebenone in the same patients. The mean idebenone exposure in the EAPs was 4.2 (range 2.4-6.1) years. The primary endpoint was the annual change in forced vital capacity percent of predicted (FVC%p) compared between Off-Idebenone and On-Idebenone periods. The annual rate of decline in FVC%p was reduced by approximately 50% from -7.4% (95% CI: -9.1, -5.8) for the Off-Idebenone periods to -3.8% (95% CI: -4.8, -2.8) for the On-Idebenone periods (N = 11). Similarly, annual change in peak expiratory flow percent of predicted (PEF%p) was -5.9% (95% CI: -8.0, -3.9) for the Off-Idebenone periods (N = 9) and reduced to -1.9% (95% CI: -3.2, -0.7) for the On-Idebenone periods during the EAPs. The reduced rates of decline in FVC%p and PEF%p were maintained for several years with possible beneficial effects on the rate of bronchopulmonary adverse events, time to 10% decline in FVC%p and risk of hospitalization due to respiratory cause. These long-term data provide Class IV evidence to further support the disease modifying treatment effect of idebenone previously observed in randomized, controlled trials. ispartof: NEUROMUSCULAR DISORDERS vol:30 issue:1 pages:5-16 ispartof: location:England status: published

Published
2020

33. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Author

Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E, Ataluren Phase 2b Study Grp, Schara, Ulrike (Beitragende*r), and Marina, Adela Della (Beitragende*r)

Subjects
Male, 0301 basic medicine, Adolescent, Duchenne muscular dystrophy, Nonsense mutation, Medizin, Neuropsychological Tests, 030105 genetics & heredity, Article, Young Adult, 03 medical and health sciences, Exon, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Genotype, Memory span, medicine, Humans, Child, Genetics, biology, Promoter, Duchenne, medicine.disease, Muscular Dystrophy, Duchenne, Cross-Sectional Studies, Memory, Short-Term, Codon, Nonsense, Child, Preschool, Mutation (genetic algorithm), biology.protein, Neurology (clinical), Dystrophin, 030217 neurology & neurosurgery
Abstract

ObjectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).MethodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span backward (d-sb) scores to the location of nmDMD mutations in 169 participants ≥5 to ≤20 years who participated in a phase 2b clinical trial. Because alternative promoters are found upstream of DMD exons 30, 45, and 63, we correlated d-sf and d-sb to the specific nmDMD mutation location.ResultsParticipants with nm downstream of exon 30, downstream of exon 45, and downstream of exon 63 had significantly lower normalized d-sf scores (p < 0.0001). Participants with nm downstream of exon 45 in addition had significantly lower normalized d-sb score (p < 0.04). There was no significant difference in the normalized d-sb score in participants with mutations upstream or downstream of DMD exon 30 or upstream or downstream of DMD exon 63.ConclusionOur data provide evidence that specific cognitive deficits correlate to genotype in individuals with nmDMD, highlighting the critical role of brain-specific dystrophin isoforms in the neurobiological manifestations of this disease.Clinicaltrials.gov identifierNCT02090959.

Published
2018

38. DMD – BIOMARKERS & OUTCOME MEASURES

Author

Hogrel, J., primary, Decostre, V., additional, Ledoux, I., additional, de Antonio, M., additional, Niks, E., additional, de Groot, I., additional, Straub, V., additional, Muntoni, F., additional, Ricotti, V., additional, Voit, T., additional, Seferian, A., additional, Gidaro, T., additional, and Servais, L., additional

Published
2020
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39. DMD – THERAPY

Author

Buyse, G., primary, Voit, T., additional, McDonald, C., additional, Gordish-Dressman, H., additional, Henricson, E., additional, Serjesen, T., additional, Bernert, G., additional, D'Angelo, M., additional, and Leinonen, M., additional

Published
2020
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48. miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

Author

Sanson, M., primary, Vu Hong, A., additional, Massourides, E., additional, Bourg, N., additional, Suel, L., additional, Amor, F., additional, Corre, G., additional, Bénit, P., additional, Barthélémy, I., additional, Blot, S., additional, Bigot, A., additional, Pinset, C., additional, Rustin, P., additional, Servais, L., additional, Voit, T., additional, Richard, I., additional, and Israeli, D., additional

Published
2020
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