Results 111 to 120 of about 927 (180)

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation. [PDF]

HGG Adv
Silverstein S, Orbach R, Syeda S, Foley AR, Gorokhova S, Meilleur KG, Leach ME, Uapinyoying P, Chao KR, Donkervoort S, Bönnemann CG.   +10 more
europepmc   +1 more source

Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies. [PDF]

Int J Mol Sci
López-Cabrera A, Piñero-Pérez R, Álvarez-Córdoba M, Cilleros-Holgado P, Gómez-Fernández D, Reche-López D, Romero-González A, Romero-Domínguez JM, de la Mata M, de Pablos RM, González-Granero S, García-Verdugo JM, Sánchez-Alcázar JA.   +12 more
europepmc   +1 more source

HIV-associated nemaline myopathy manifesting as bent spine syndrome. [PDF]

BMJ Case Rep
Nasir AZ, Jameson A.
europepmc   +1 more source

Monoclonal Gammopathy of Clinical Significance-Associated Glycogen Storage Myopathy: A Novel Acquired Muscle Disease. [PDF]

Cureus
Belkhribchia MR, Toua T, Lobrinus JA, Vallat JM, Salmaoui J.   +4 more
europepmc   +1 more source

Vacuolar myopathy associated with lambda light chain myeloma: a case report and review of the literature. [PDF]

BMC Musculoskelet Disord
de Berny Q, Salle V, Renard C, Merle PE, Guilain N, Choukroun G, Morel P, Fourdinier O.   +7 more
europepmc   +1 more source

A rare case of myopathy with fatigability due to <i>PYROXD1</i> variation. [PDF]

J Neuromuscul Dis
Baskar D, Thomas A, Boddu VK, Santhoshkumar R, Anjanappa RM, Nashi S, Srivastava K, Polavarapu K, Arunachal G, Kotambail A, Rao B, Mahadevan A, Nalini A, Vengalil S.   +13 more
europepmc   +1 more source

Monoclonal Gammopathy of Undetermined Significance with Associated Necrotizing Myopathy: A Case Report and Review of the Literature. [PDF]

Eur J Case Rep Intern Med
Bode A, Borja Montes OF, SantaCruz K, Baker Sheikh A.   +3 more
europepmc   +1 more source

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. [PDF]

Genome Med
de Feraudy Y, Vandroux M, Romero NB, Schneider R, Saker S, Boland A, Deleuze JF, Biancalana V, Böhm J, Laporte J.   +9 more
europepmc   +1 more source

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant. [PDF]

Neurol Genet
Baskar D, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Töpf A, Thomas A, Sanka SB, Menon D, Srivastava K, Arunachal G, Nandeesh BN, Lochmüller H, Nalini A.   +13 more
europepmc   +1 more source

Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center. [PDF]

Acta Neurol Belg
Haidong L, Yin L, Ping C, Xianzhao Z, Qi Q, Xiaoli M, Zheng L, Wenhao C, Yaguang Z, Qianqian Q.   +9 more
europepmc   +1 more source