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Congenital myopathies.
D'Amico A, Bertini E. D'Amico A, et al. Curr Neurol Neurosci Rep. 2008 Jan;8(1):73-9. doi: 10.1007/s11910-008-0012-3. Curr Neurol Neurosci Rep. 2008. PMID: 18367042 Review.
These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. ...Here, we focus on recent research advances in specific congenital myopathies, including nemaline myopathy, myotub …
These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classificatio …
[Congenital myopathies].
Cabello A, Ricoy-Campo JR. Cabello A, et al. Rev Neurol. 2003 Oct 16-31;37(8):779-86. Rev Neurol. 2003. PMID: 14593641 Free article. Review. Spanish.
AIM: To resume clinical, pathological and genetic findings of the most frequent myopathies in this group. DEVELOPMENT: The most severe of these group is myotubular myopathy; affected boys die frequently in the neonatal period due to respiratory failure. ...Other phe …
AIM: To resume clinical, pathological and genetic findings of the most frequent myopathies in this group. DEVELOPMENT: The most sever …
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major m …
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, …
Current and future therapeutic approaches to the congenital myopathies.
Jungbluth H, Ochala J, Treves S, Gautel M. Jungbluth H, et al. Semin Cell Dev Biol. 2017 Apr;64:191-200. doi: 10.1016/j.semcdb.2016.08.004. Epub 2016 Aug 8. Semin Cell Dev Biol. 2017. PMID: 27515125 Review.
The congenital myopathies - including Central Core Disease (CCD), Multi-minicore Disease (MmD), Centronuclear Myopathy (CNM), Nemaline Myopathy (NM) and Congenital Fibre Type Disproportion (CFTD) - are a genetically heterogeneous group of early-onset n …
The congenital myopathies - including Central Core Disease (CCD), Multi-minicore Disease (MmD), Centronuclear Myopathy (CNM), …
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.
Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Jungbluth H, et al. Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. Nat Rev Neurol. 2018. PMID: 29391587 Review.
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly progressive course. ...Central core disease (CCD), multi-minicore disease (MmD), centronuclear …
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with characteristic muscle biopsy findi …
The role of immunocytochemistry in congenital myopathies.
Sewry CA. Sewry CA. Neuromuscul Disord. 1998 Aug;8(6):394-400. doi: 10.1016/s0960-8966(98)00053-4. Neuromuscul Disord. 1998. PMID: 9713857 Review.
Immunocytochemistry is playing an increasingly important role in the field of congenital myopathies. It is not yet the diagnostic tool that it is for the muscular dystrophies, but nevertheless it provides useful information on the nature of the structural defects that defi …
Immunocytochemistry is playing an increasingly important role in the field of congenital myopathies. It is not yet the diagnostic too …
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.
Sanoudou D, Beggs AH. Sanoudou D, et al. Trends Mol Med. 2001 Aug;7(8):362-8. doi: 10.1016/s1471-4914(01)02089-5. Trends Mol Med. 2001. PMID: 11516997 Review.
The term nemaline myopathy (NM) encompasses a heterogeneous group of disorders of primary skeletal muscle weakness characterized by the presence of nemaline rods in muscles of affected individuals. ...
The term nemaline myopathy (NM) encompasses a heterogeneous group of disorders of primary skeletal muscle weakness characteriz …
Cerebral dysgeneses and their influence on fetal muscle development.
Sarnat HB. Sarnat HB. Brain Dev. 1986;8(5):495-9. doi: 10.1016/s0387-7604(86)80093-6. Brain Dev. 1986. PMID: 3541664 Review.
Upper motor neuron disease during embryonic life may explain histochemical alterations in some nonprogressive 'congenital myopathies' such as congenital muscle fibre-type disproportion, nemaline rod disease, and central core disease. ...
Upper motor neuron disease during embryonic life may explain histochemical alterations in some nonprogressive 'congenital myopathies' …
[Treatability of sporadic late onset nemaline myopathy].
Hanisch F, Schneider I, Müller T, Romeike BF, Stoltenburg G, Holzhausen HJ, Zierz S. Hanisch F, et al. Nervenarzt. 2013 Aug;84(8):955-61. doi: 10.1007/s00115-013-3825-5. Nervenarzt. 2013. PMID: 23836301 Review. German.
Sporadic late onset nemaline myopathy (SLONM) is an extremely rare disorder which can be associated with monoclonal gammopathy of unclear significance (MGUS). Clinically SLONM appears mostly after the fourth decade of life as rapidly progressing tetraparesis, respir …
Sporadic late onset nemaline myopathy (SLONM) is an extremely rare disorder which can be associated with monoclonal gammopathy …
13 results