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Water T2 could predict functional decline in patients with dysferlinopathy
Water T2 could predict functional decline in patients with dysferlinopathy
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Water T2 could predict functional decline in patients with dysferlinopathy

Moore, Ursula ; Caldas de Almeida Araújo, Ericky ; Reyngoudt, Harmen ; Gordish‐Dressman, Heather ; Smith, Fiona E. ; Wilson, Ian ; James, Meredith ; Mayhew, Anna ; Rufibach, Laura ; Day, John W. ; Jones, Kristi J. ; Bharucha‐Goebel, Diana X. ; Salort‐Campana, Emmanuelle ; Pestronk, Alan ; Walter, Maggie C. ; Paradas, Carmen ; Stojkovic, Tanya ; Mori‐Yoshimura, Madoka ; Bravver, Elena ; Pegoraro, Elena ; Mendell, Jerry R. ; Bushby, Kate ; Blamire, Andrew M. ; Straub, Volker ; Carlier, Pierre G. ; Diaz‐Manera, Jordi

Journal of cachexia, sarcopenia and muscle, 2022-12, Vol.13 (6), p.2888-2897 [Periódico revisado por pares]

Germany: John Wiley & Sons, Inc

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2
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
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Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study

Doody, Amy ; Alfano, Lindsay ; Diaz-Manera, Jordi ; Lowes, Linda ; Mozaffar, Tahseen ; Mathews, Katherine D ; Weihl, Conrad C ; Wicklund, Matthew ; Hung, Man ; Statland, Jeffrey ; Johnson, Nicholas E

BMC neurology, 2024-03, Vol.24 (1), p.96-96, Article 96 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation
TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation
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TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation

Guan, Yuqing ; Liang, Xiongda ; Li, Wei ; Lin, Wanying ; Liang, Guanxia ; Xie, Hongting ; Hou, Yu ; Hu, Yafang ; Shang, Xuan

Skeletal muscle, 2023-05, Vol.13 (1), p.10-10, Article 10 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
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The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Wang, Liang ; Zhang, Victor Wei ; Li, Shaoyuan ; Li, Huan ; Sun, Yiming ; Li, Jing ; Zhu, Yuling ; He, Ruojie ; Lin, Jinfu ; Zhang, Cheng

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.133-133, Article 133 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Johnson, 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, Volker

Orphanet journal of rare diseases, 2017-11, Vol.12 (1), p.173-173, Article 173 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
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Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1

Banerjee, Sukanya ; Radotra, Bishan Dass ; Luthra-Guptasarma, Manni ; Goyal, Manoj K

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.140-140, Article 140 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
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Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Inashkina, 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, Baiba

BMC musculoskeletal disorders, 2016-05, Vol.17 (201), p.200-200, Article 200 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
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 dystrophies
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 dystrophies
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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 dystrophies

Suriyonplengsaeng, Chinnawut ; Dejthevaporn, Charungthai ; Khongkhatithum, Chaiyos ; Sanpapant, Suda ; Tubthong, Nattha ; Pinpradap, Koset ; Srinark, Nippa ; Waisayarat, Jariya

Diagnostic pathology, 2017-02, Vol.12 (1), p.19-19, Article 19 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
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Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Sandell, Satu ; Huovinen, Sanna ; Palmio, Johanna ; Raheem, Olayinka ; Lindfors, Mikaela ; Zhao, Fang ; Haapasalo, Hannu ; Udd, Bjarne

Acta neuropathologica communications, 2016-02, Vol.4 (10), p.9-9, Article 9 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies
Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies
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Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies

García-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, Rosa

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.450-450, Article 450 [Periódico revisado por pares]

England: BioMed Central Ltd

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