Results 111 to 120 of about 69,426 (175)

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

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

BMJ Case Rep
Nasir AZ, Jameson A.
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

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

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Nemaline myopathy with intranuclear rods—intranuclear rod myopathy

Neuromuscular Disorders, 1997
Among the different nosological forms of nemaline/rod myopathy, one morphological variant is marked by intranuclear rods in addition to sarcoplasmic rods. Such patients fall into two categories: firstly, adults and secondly, young infants suffering from the severe form. Intranuclear rods indicate unfavourable prognosis.
H H, Goebel, I, Warlo
exaly   +3 more sources