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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD studyDoody, Amy ; Alfano, Lindsay ; Diaz-Manera, Jordi ; Lowes, Linda ; Mozaffar, Tahseen ; Mathews, Katherine D ; Weihl, Conrad C ; Wicklund, Matthew ; Hung, Man ; Statland, Jeffrey ; Johnson, Nicholas EBMC neurology, 2024-03, Vol.24 (1), p.96-96, Article 96 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 2 |
Material Type: Article
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TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlationGuan, Yuqing ; Liang, Xiongda ; Li, Wei ; Lin, Wanying ; Liang, Guanxia ; Xie, Hongting ; Hou, Yu ; Hu, Yafang ; Shang, XuanSkeletal muscle, 2023-05, Vol.13 (1), p.10-10, Article 10 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 3 |
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The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patientsWang, Liang ; Zhang, Victor Wei ; Li, Shaoyuan ; Li, Huan ; Sun, Yiming ; Li, Jing ; Zhu, Yuling ; He, Ruojie ; Lin, Jinfu ; Zhang, ChengOrphanet journal of rare diseases, 2018-08, Vol.13 (1), p.133-133, Article 133 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 4 |
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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessJohnson, Katherine ; Töpf, Ana ; Bertoli, Marta ; Phillips, Lauren ; Claeys, Kristl G ; Stojanovic, Vidosava Rakocevic ; Perić, Stojan ; Hahn, Andreas ; Maddison, Paul ; Akay, Ela ; Bastian, Alexandra E ; Łusakowska, Anna ; Kostera-Pruszczyk, Anna ; Lek, Monkol ; Xu, Liwen ; MacArthur, Daniel G ; Straub, VolkerOrphanet journal of rare diseases, 2017-11, Vol.12 (1), p.173-173, Article 173 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 5 |
Material Type: Article
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Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1Banerjee, Sukanya ; Radotra, Bishan Dass ; Luthra-Guptasarma, Manni ; Goyal, Manoj KOrphanet journal of rare diseases, 2024-04, Vol.19 (1), p.140-140, Article 140 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 6 |
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Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophiesInashkina, Inna ; Jankevics, Eriks ; Stavusis, Janis ; Vasiljeva, Inta ; Viksne, Kristine ; Micule, Ieva ; Strautmanis, Jurgis ; Naudina, Maruta S ; Cimbalistiene, Loreta ; Kucinskas, Vaidutis ; Krumina, Astrida ; Utkus, Algirdas ; Burnyte, Birute ; Matuleviciene, Ausra ; Lace, BaibaBMC musculoskeletal disorders, 2016-05, Vol.17 (201), p.200-200, Article 200 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 7 |
Material Type: Article
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Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophiesSuriyonplengsaeng, Chinnawut ; Dejthevaporn, Charungthai ; Khongkhatithum, Chaiyos ; Sanpapant, Suda ; Tubthong, Nattha ; Pinpradap, Koset ; Srinark, Nippa ; Waisayarat, JariyaDiagnostic pathology, 2017-02, Vol.12 (1), p.19-19, Article 19 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 8 |
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Diagnostically important muscle pathology in DNAJB6 mutated LGMD1DSandell, Satu ; Huovinen, Sanna ; Palmio, Johanna ; Raheem, Olayinka ; Lindfors, Mikaela ; Zhao, Fang ; Haapasalo, Hannu ; Udd, BjarneActa neuropathologica communications, 2016-02, Vol.4 (10), p.9-9, Article 9 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 9 |
Material Type: Article
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Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophiesGarcía-Giménez, José Luis ; García-Trevijano, Elena R ; Avilés-Alía, Ana I ; Ibañez-Cabellos, José Santiago ; Bovea-Marco, Miquel ; Bas, Teresa ; Pallardó, Federico V ; Viña, Juan R ; Zaragozá, RosaOrphanet journal of rare diseases, 2022-12, Vol.17 (1), p.450-450, Article 450 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 10 |
Material Type: Article
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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe diseaseBevilacqua, Jorge A ; Guecaimburu Ehuletche, Maria Del Rosario ; Perna, Abayuba ; Dubrovsky, Alberto ; Franca, Jr, Marcondes C ; Vargas, Steven ; Hegde, Madhuri ; Claeys, Kristl G ; Straub, Volker ; Daba, Nadia ; Faria, Roberta ; Periquet, Magali ; Sparks, Susan ; Thibault, Nathan ; Araujo, RobertoOrphanet journal of rare diseases, 2020-01, Vol.15 (1), p.11-11, Article 11 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
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