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Page 1
Mitochondrial Dysfunction in Kidney Tubulopathies.
Hoogstraten CA, Hoenderop JG, de Baaij JHF. Hoogstraten CA, et al. Annu Rev Physiol. 2024 Feb 12;86:379-403. doi: 10.1146/annurev-physiol-042222-025000. Epub 2023 Nov 27. Annu Rev Physiol. 2024. PMID: 38012047 Free article. Review.
Mitochondrial abundance is particularly high in cortical segments, including proximal and distal convoluted tubules. Dysfunction of the mitochondria has been described for tubulopathies such as Fanconi, Gitelman, and Bartter-like syndromes and renal tubular acidosis. ...Ne …
Mitochondrial abundance is particularly high in cortical segments, including proximal and distal convoluted tubules. Dysfunction of t …
Core myopathies - a short review.
Topaloglu H. Topaloglu H. Acta Myol. 2020 Dec 1;39(4):266-273. doi: 10.36185/2532-1900-029. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458581 Free PMC article. Review.
Congenital myopathies represent a clinically and genetically heterogeneous group of early-onset neuromuscular diseases with characteristic, but not always specific, histopathological features, often presenting with stable and/or slowly progressive truncal and pro
Congenital myopathies represent a clinically and genetically heterogeneous group of early-onset neuromuscular diseases with ch …
Hereditary myosin myopathies.
Oldfors A. Oldfors A. Neuromuscul Disord. 2007 May;17(5):355-67. doi: 10.1016/j.nmd.2007.02.008. Epub 2007 Apr 16. Neuromuscul Disord. 2007. PMID: 17434305 Review.
MSM affects proximal or scapuloperoneal muscles whereas Laing distal myopathy primarily affects the dorsiflexor muscles of the toes and ankles. ...A myopathy associated with a specific mutation in MYH2 is associated with congenital joint contractures and exte …
MSM affects proximal or scapuloperoneal muscles whereas Laing distal myopathy primarily affects the dorsiflexor muscles of the …
Renal involvement in mitochondrial cytopathies.
Emma F, Bertini E, Salviati L, Montini G. Emma F, et al. Pediatr Nephrol. 2012 Apr;27(4):539-50. doi: 10.1007/s00467-011-1926-6. Epub 2011 Jun 9. Pediatr Nephrol. 2012. PMID: 21656172 Free PMC article. Review.
The most frequent renal symptom is a tubular defect that, in most severe forms, corresponds to a complete De Toni-Debre-Fanconi syndrome. Incomplete proximal tubular defects and other tubular diseases have also been reported. ...In this Educational Review, the princ …
The most frequent renal symptom is a tubular defect that, in most severe forms, corresponds to a complete De Toni-Debre-Fanconi syndrome. In …
[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.
INTRODUCTION: Congenital myopathies include many genetically distinct diseases which have in common the early appearance of symptoms and characteristic morphological findings. ...The gene mutated is in Xq28 and more than 140 different mutations have been reported. C …
INTRODUCTION: Congenital myopathies include many genetically distinct diseases which have in common the early appearance of sy …
Mitochondrial myopathies.
Harding AE, Holt IJ. Harding AE, et al. Br Med Bull. 1989 Jul;45(3):760-71. doi: 10.1093/oxfordjournals.bmb.a072356. Br Med Bull. 1989. PMID: 2688827 Review.
The mitochondrial myopathies give rise to a diverse group of clinical syndromes, variably involving skeletal muscle and the central nervous system, with onset in childhood or adult life. ...Deletions are not detected in cases of proximal myopathy alone, or th …
The mitochondrial myopathies give rise to a diverse group of clinical syndromes, variably involving skeletal muscle and the central n …
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ. Lawal TA, et al. Orphanet J Rare Dis. 2020 May 7;15(1):113. doi: 10.1186/s13023-020-01384-x. Orphanet J Rare Dis. 2020. PMID: 32381029 Free PMC article. Review.
BACKGROUND: Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum of rare neurom …
BACKGROUND: Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperther …
Kearns Sayre Syndrome--case report with review of literature.
Phadke M, Lokeshwar MR, Bhutada S, Tampi C, Saxena R, Kohli S, Shah KN. Phadke M, et al. Indian J Pediatr. 2012 May;79(5):650-4. doi: 10.1007/s12098-011-0618-3. Epub 2012 Jan 10. Indian J Pediatr. 2012. Retraction in: Indian J Pediatr. 2013 Nov;80(11):982. doi: 10.1007/s12098-013-1123-7. PMID: 22231766 Retracted. Review.
Kearns-Sayre syndrome may affect many organ systems and additional features may include myopathy, dystonia, bulbar symptoms in the form of dysarthria and nasal regurgitation and bilateral facial weakness. Endocrine abnormalities (e.g., diabetes, growth retardation/short st …
Kearns-Sayre syndrome may affect many organ systems and additional features may include myopathy, dystonia, bulbar symptoms in the fo …
[External progressive ophthalmoplegia secondary to mitochondrial myopathy. Report of a case and review of the literature].
Calderón-Garcidueñas AL, Pérez-Loria O, Alberto-Sagástegui J, Farías-García R. Calderón-Garcidueñas AL, et al. Gac Med Mex. 2000 May-Jun;136(3):267-71. Gac Med Mex. 2000. PMID: 10893855 Review. Spanish.
Progressive limitation of occular motility, accompanied by ptosis but usually without diplopia, occurs in many pathologic states, including mitochondrial diseases. A case with chronic progressive external ophthalmoplegia with onset during childhood, associated with …
Progressive limitation of occular motility, accompanied by ptosis but usually without diplopia, occurs in many pathologic states, including …
[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
Mukai M, Sugaya K, Matsubara S, Cai H, Yabe I, Sasaki H, Nakano I. Mukai M, et al. Rinsho Shinkeigaku. 2014;54(5):417-22. doi: 10.5692/clinicalneurol.54.417. Rinsho Shinkeigaku. 2014. PMID: 24943079 Review. Japanese.
Patients with multiple mtDNA deletion disorders show clinical heterogeneity of symptoms, in addition to usually seen progressive external ophthalmoplegia (PEO). We conducted clinical, histological and genetic analyses of two affected sisters in a family with the autosomal …
Patients with multiple mtDNA deletion disorders show clinical heterogeneity of symptoms, in addition to usually seen progressive external …
11 results