Results 111 to 120 of about 32,083 (123)

Clinical and ultrasonographic evaluation of dysphagia in patients with LAMA2-CMD

Arquivos de Neuro-Psiquiatria
Background: LAMA2-CMD is a rare autosomal recessive disease characterized by hypotonia, muscle weakness, and the inability to achieve independent gait. It imposes a considerable disease burden, including difficulty in weight gain and dysphagia. Objective: However, this disease burden has not been thoroughly assessed in the medical literature, and this ...
Clara Gontijo Camelo, Pedro Henrique Marte de Arruda Sampaio, Ana Lucila Moreira, Cristiane de Araujo Martins Moreno, Mariana Cunha Artilheiro, André Macedo Serafim da Silva, Umbertina Conti Reed, Edmar Zanoteli   +7 more
openaire   +1 more source

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Frontiers in Molecular Neuroscience, 2020
Madeleine Durbeej
exaly   +4 more sources

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Frontiers in Pediatrics, 2023
Yuqing Xu, Min-Yue Dong, Yeqing Qian
exaly  

22P Clinical and ultrasonographic evaluation of dysphagia in patients with LAMA2-CMD

Neuromuscular Disorders
C. Camelo, P. Sampaio, A. Moreira, C. Moreno, M. Artilheiro, A. Silva, U. Reed, E. Zanoteli   +7 more
openaire   +1 more source

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

Frontiers in Genetics, 2023
Lorena Diaz-Ordonez, Harry Pachajoa
exaly  

Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature

Seizure: the Journal of the British Epilepsy Association, 2021
Federico Sicca, Gianluca Sesso, Andrea Salvati   +2 more
exaly  

Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern

Neuromuscular Disorders, 2021
Tamer El-Sobky, Nagia Fahmy, Bjarne Udd
exaly  

Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Arquivos De Neuro-Psiquiatria, 2023
Leandro Tavares Lucato, Clara Gontijo Camelo, Edmar Zanoteli   +2 more
exaly  

A molecular makeover of laminin-α4 with linker proteins to mimic the function of laminin-α2 for the treatment of LAMA2-CMD

Molecular Therapy
Hailey J. Hermann, Shannen McDermott, Dean J. Burkin   +2 more
openaire   +1 more source

Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency†

Human Mutation, 2003
Elena Pegoraro, Richard Finkel, Corrado Angelini   +2 more
exaly