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NEUROMUSCULAR DISORD

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Publications

  1. 2024

  2. "Amyopathic" MDA5-positive dermatomyositis with severe lung involvement presenting with net myositic morphological features - insights from an autopsy study

    Englert, B., Dittmayer, C., Goebel, H-H., Schneider, U., Holzer, M-T., Uruha, A. & Stenzel, W., 03.2024, In: NEUROMUSCULAR DISORD. 36, p. 42-47 6 p.

    Research output: SCORING: Contribution to journal › Case report › Research › peer-review

  3. 2018

  4. Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy

    Golsari, A., Nasimzadah, A., Thomalla, G., Keller, S., Gerloff, C. & Magnus, T., 03.2018, In: NEUROMUSCULAR DISORD. 28, 3, p. 257-261 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. 2015

  6. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

    Musumeci, O., Thieme, A., Claeys, K. G., Wenninger, S., Kley, R. A., Kuhn, M., Lukacs, Z., Deschauer, M., Gaeta, M., Toscano, A., Gläser, D. & Schoser, B., 09.2015, In: NEUROMUSCULAR DISORD. 25, 9, p. 719-24 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

    Gutiérrez-Rivas, E., Bautista, J., Vílchez, J. J., Muelas, N., Díaz-Manera, J., Illa, I., Martínez-Arroyo, A., Olivé, M., Sanz, I., Arpa, J., Fernández-Torrón, R., López de Munáin, A., Jiménez, L., Solera, J. & Lukacs, Z., 07.2015, In: NEUROMUSCULAR DISORD. 25, 7, p. 548-53 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. 2011

  9. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

    Yis, U., Uyanik, G., Heck, P. B., Smitka, M., Nobel, H., Ebinger, F., Dirik, E., Feng, L., Kurul, S. H., Brocke, K., Unalp, A., Özer, E., Cakmakci, H., Sewry, C., Cirak, S., Muntoni, F., Hehr, U. & Morris-Rosendahl, D. J., 2011, In: NEUROMUSCULAR DISORD. 21, 1, p. 20-30 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. 2010

  11. Incontinetia pigmenti-related myopathy or unsolved "double trouble"?

    Huttner, H. B., Richter, G., Jünemann, A., Kress, W., Weis, J., Schröder, J. M., Gal, A., Doerfler, A., Udd, B. & Schröder, R., 2010, In: NEUROMUSCULAR DISORD. 20, 2, p. 139-141 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review