Zoekresultaten - Dastgir, Jahannaz

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia door Donkervoort, Sandra, Dastgir, Jahannaz, Hu, Ying, Zein, Wadih, Marks, Harold, Blackstone, Craig, Bönnemann, Carsten G.

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Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases door Adams, Darius, Midei, Mark, Dastgir, Jahannaz, Flora, Christina, Molinari, Robert J, Heerinckx, Frederic, Endemann, Sarah, Atwal, Paldeep, Milner, Peter, Shchepinov, Mikhail S.

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Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype door Bharucha-Goebel, Diana X., Neil, Erin, Donkervoort, Sandra, Dastgir, Jahannaz, Wiggs, Edythe, Winder, Thomas L., Moore, Steven A., Iannaccone, Susan T., Bönnemann, Carsten G.

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Common Data Elements for Muscle Biopsy Reporting door Dastgir, Jahannaz, Rutkowski, Anne, Alvarez, Rachel, Cossette, Stacy A., Yan, Ke, Hoffmann, Raymond G., Sewry, Caroline, Hayashi, Yukiko K., Goebel, Hans-Hilmar, Bonnemann, Carsten, Lawlor, Michael W.

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‘Double Trouble’: Diagnostic Challenges in Duchenne Muscular Dystrophy in Patients with an Additional Hereditary Skeletal Dysplasia door Donkervoort, Sandra, Schindler, Alice, Tesi-Rocha, Carolina, Schreiber, Allison, Leach, Meganne E., Dastgir, Jahannaz, Hu, Ying, Mankodi, Ami, Wagner, Kathryn R., Friedman, Neil R., Bönnemann, Carsten G.

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Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study door Batra, Abhinandan, Lott, Donovan J., Willcocks, Rebecca, Forbes, Sean C., Triplett, William, Dastgir, Jahannaz, Yun, Pomi, Foley, A. Reghan, Bönnemann, Carsten G., Vandenborne, Krista, Walter, Glenn A.

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Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies door Guadagnin, Eleonora, Mohassel, Payam, Johnson, Kory R., Yang, Lin, Santi, Mariarita, Uapinyoying, Prech, Dastgir, Jahannaz, Hu, Ying, Dillmann, Allissa, Cookson, Mark R., Foley, A. Reghan, Bönnemann, Carsten G.

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Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum door Bharucha-Goebel, Diana Xerxes, Santi, Mariarita, Medne, Līvija, Zukosky, Kristin, Dastgir, Jahannaz, Shieh, Perry B., Winder, Thomas, Tennekoon, Gihan, Finkel, Richard S., Dowling, James J., Monnier, Nicole, Bönnemann, Carsten G.

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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation door Hu, Ying, Mohassel, Payam, Donkervoort, Sandra, Yun, Pomi, Bolduc, Véronique, Ezzo, Daniel, Dastgir, Jahannaz, Marshall, Jamie L., Lek, Monkol, MacArthur, Daniel G., Foley, A. Reghan, Bönnemann, Carsten G.

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Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies door Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., Weiss, Robert B., Bönnemann, Carsten G.

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Comparison of Sitting and Supine Forced Vital Capacity in Collagen VI-Related Dystrophy and Laminin α2-Related Dystrophy door Meilleur, Katherine G., Linton, Melody M., Fontana, Joseph, Rutkowski, Anne, Elliott, Jeffrey, Barton, Mark, McGraw, Peter, Kokkinis, Angela, Donkervoort, Sandra, Leach, Meganne, Jain, Minal, Dastgir, Jahannaz, Collins, James, Szczesniak, Rhonda, Yang, Kelly, Sawnani, Hemant, Bönnemann, Carsten G.

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ELECTRICAL IMPEDANCE MYOGRAPHY IN INDIVIDUALS WITH COLLAGEN 6 AND LAMININ α-2 CONGENITAL MUSCULAR DYSTROPHY: A CROSS-SECTIONAL AND 2-YEAR ANALYSIS door NICHOLS, CARMEL, JAIN, MINAL S., MEILLEUR, KATHERINE G., WU, TIANXIA, COLLINS, JAMES, WAITE, MELISSA R., DASTGIR, JAHANNAZ, SALMAN, ANAM, DONKERVOORT, SANDRA, DUONG, TINA, KELLER, KATHERINE, LEACH, MEGANNE E., LOTT, DONOVAN J., MCGUIRE, MICHELLE N., NELSON, LESLIE, RUTKOWSKI, ANNE, VUILLEROT, CAROLE, BÖNNEMANN, CARSTEN G., LEHKY, TANYA J.

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Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations door Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A., Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C., Rorke-Adams, Lucy B., Bönnemann, Carsten G.

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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye door Zou, Yaqun, Donkervoort, Sandra, Salo, Antti M., Foley, A. Reghan, Barnes, Aileen M., Hu, Ying, Makareeva, Elena, Leach, Meganne E., Mohassel, Payam, Dastgir, Jahannaz, Deardorff, Matthew A., Cohn, Ronald D., DiNonno, Wendy O., Malfait, Fransiska, Lek, Monkol, Leikin, Sergey, Marini, Joan C., Myllyharju, Johanna, Bönnemann, Carsten G.

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A Cross-Sectional Study of Nemaline Myopathy door Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.

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Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family door Zukosky, Kristen, Meilleur, Katherine, Traynor, Bryan J., Dastgir, Jahannaz, Medne, Livija, Devoto, Marcella, Collins, James, Rooney, Jachinta, Zou, Yaqun, Yang, Michele L., Gibbs, J. Raphael, Meier, Markus, Stetefeld, Joerg, Finkel, Richard S., Schessl, Joachim, Elman, Lauren, Felice, Kevin, Ferguson, Toby A., Ceyhan-Birsoy, Ozge, Beggs, Alan H., Tennekoon, Gihan, Johnson, Janel O., Bönnemann, Carsten G.

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Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy door Bendixen, Roxanna M., Butrum, Jocelyn, Jain, Mina S., Parks, Rebecca, Hodsdon, Bonnie, Nichols, Carmel, Hsia, Michelle, Nelson, Leslie, Keller, Katherine C., McGuire, Michelle, Elliott, Jeffrey S., Linton, Melody M., Arveson, Irene C., Tounkara, Fatou, Vasavada, Ruhi, Harnett, Elizabeth, Punjabi, Monal, Donkervoort, Sandra, Dastgir, Jahannaz, Leach, Meganne E., Rutkowski, Anne, Waite, Melissa, Collins, James, Bönnemann, Carsten G., Meilleur, Katherine G.

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A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the... door Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne

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GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome door Foley, A. Reghan, Zou, Yaqun, Dunford, James E., Rooney, Jachinta, Chandra, Goutam, Xiong, Hui, Straub, Volker, Voit, Thomas, Romero, Norma, Donkervoort, Sandra, Hu, Ying, Markello, Thomas, Horn, Adam, Qebibo, Leila, Dastgir, Jahannaz, Meilleur, Katherine G., Finkel, Richard S., Fan, Yanbin, Mamchaoui, Kamel, Duguez, Stephanie, Nelson, Isabelle, Laporte, Jocelyn, Santi, Mariarita, Malfatti, Edoardo, Maisonobe, Thierry, Touraine, Philippe, Hirano, Michio, Hughes, Imelda, Bushby, Kate, Oppermann, Udo, Böhm, Johann, Jaiswal, Jyoti K., Stojkovic, Tanya, Bönnemann, Carsten G.

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Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies door Natera-de Benito, Daniel, Foley, A. Reghan, Domínguez-González, Cristina, Ortez, Carlos, Jain, Minal, Mebrahtu, Aron, Donkervoort, Sandra, Hu, Ying, Fink, Margaret, Yun, Pomi, Ogata, Tracy, Medina, Julita, Vigo, Meritxell, Meilleur, Katherine G., Leach, Meganne E., Dastgir, Jahannaz, Díaz-Manera, Jordi, Carrera-García, Laura, Expósito-Escudero, Jessica, Alarcon, Macarena, Cuadras, Daniel, Montiel-Morillo, Elena, Milisenda, José C., Dominguez-Rubio, Raul, Olivé, Montse, Colomer, Jaume, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Bönnemann, Carsten G., Nascimento, Andres

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