Results 81 to 90 of about 207 (93)

A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2020
Stefan Nicolau, Karine Choquet, Eric Bareke, Yi-Hong Shao, Bernard Brais, Erin K. O’Ferrall, Martine Tétreault, Jason Karamchandani   +7 more
openaire   +2 more sources

Phenotypic variability in Tunisian LGMDR1 patients harboring c.1194-9A>G splicing mutation

Journal of the Neurological Sciences, 2023
Ikhlass Belhassen, Salma Sakka, Nadia Bouattour, Juliette Nectoux, Mariem Damak, France Leturcq, Chokri Mhiri   +6 more
openaire   +1 more source

Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients

Brain and Development, 2023
Federico Zara, Claudio Bruno, Giorgio Tasca   +2 more
exaly  

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India

Journal of Neuromuscular Diseases, 2021
Vaishali Suri, Rohit Bhatia, Pankaj Pathak   +2 more
exaly  

Virale Genersatztherapie im Mausmodell der Calpainopathie (LGMDR1/2A)

Nervenheilkunde
A Würz, J Dietz, N Südkamp, M Mark, M Andriske, D Grimm, M Vorgerd, J Kinold, A-K Güttsches   +8 more
openaire   +1 more source

Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up

Neurology, 2022
Kristl Claeys, Ronald Peeters, Frederik Maes   +2 more
exaly  

Author Response: Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures

Neurology, 2023
Kristl Claeys
exaly  

P.176 Evaluation of thigh muscle fat fraction with quantitative MRI in 24 adult LGMDR12 patients over 2 years of follow-up

Neuromuscular Disorders, 2022
J De Bleecker, K Claeys
exaly  

P.177 Analysis of the proximo-distal gradients of fat replacement along the length of thigh muscles in LGMDR12 patients

Neuromuscular Disorders, 2022
Frederik Maes, Patrick Dupont, K Claeys   +2 more
exaly  

Reader Response: Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures

Neurology, 2023
exaly