Research ExplorerJournalsNEUROMUSCULAR DISORD

NEUROMUSCULAR DISORD

Bibliographical data

ISSNs0960-8966

Publications

"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

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

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

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

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

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

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