Mitochondria (Mitochondriopathy)

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Mitochondria (Mitochondriopathy)

LE WE PMID CA

Mitochondria (Mitochondriopathy)

1809

Mitochondrium (Mitochondriopathie)

Adenine phosphoribosyl transferase

AIF

Alzheimer s disease

Anemia (Sickle cell)

Angelman s syndrome

Biochemical methods

Cadasil

CNS (Stroke BASKET)

Cystinosis

Cystinuria

Cytochrome c oxidase

Fabry s disease

Fanconi s syndrome

Fructose intolerance

Huntington s disease

Kidney (Malformation)

Leber s congenital amaurosis

Lesch Nyhan syndrome

Liver (Diseases)

MELAS

MIDD

Mitochondria (Mitochondriopathy)

MRS (Method)

Nephrolithiasis

Optic atrophy

Oxalosis

Phosphoribosylpyrophosphate synthetase

Preimplantation genetic testing

Tyrosinemia

Wilson s disease

Xanthine

1997 1	Mitochondrial medicine. [9474346] QJM 90(11): 657-67 (1997)
1999 2	Mitochondrial medicine--recent advances. [10447221] J Intern Med 246(1): 11-23 (1999)
2006 3	Overview on visceral manifestations of mitochondrial disorders. [16547358] Neth J Med 64(3): 61-71 (2006)
2005 4	Mitochondrial encephalomyopathies: advances in understanding. [15990701] Med Sci Monit 11(7): RA238-46 (2005)
2000 5	Mitochondrial diseases. [11208416] Med Sci Monit 6(4): 817-22 (2000)
2007 6	Psychiatric comorbidity in 36 adults with mitochondrial cytopathies. [17545953] CNS Spectr 12(6): 429-38 (2007)
2003 7	Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders. [12673356] Acta Biochim Pol 50(1): 155-67 (2003)
2002 8	The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection. [11926907] Arch Otolaryngol Head Neck Surg 128(4): 355-62 (2002)
2007 9	A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases. [17502481] J Cell Sci 120(Pt 10): 1707-16 (2007)
1998 10	Mitochondrial disorders and the kidney. [9623410] Arch Dis Child 78(4): 387-90 (1998)
1995 11	Investigation of mitochondrial disease. [7574881] Arch Dis Child 73(2): 94-7 (1995)
1995 12	Cardiomyopathy in respiratory chain disorders. [7741568] Arch Dis Child 72(3): 223-6 (1995)
1998 13	Inborn and induced defects of mitochondria. [9779655] Arch Neurol 55(10): 1293-6 (1998)
2004 14	Mitochondrial disorders. [15358637] Brain 127(Pt 10): 2153-72 (2004)
2001 15	Glomerulopathy in MELAS syndrome. [11506292] Intern Med 40(7): 561-2 (2001)
2003 16	Genetic features of mitochondrial respiratory chain disorders. [14638899] J Am Soc Nephrol 14(12): 2995-3007 (2003)
2000 17	Mitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment. [11298479] J Postgrad Med 46(3): 224-30 (2000)
1996 18	Renal involvement in mitochondrial cytopathies. [8671887] Nephrol Dial Transplant 11(5): 760-1 (1996)
2008 19	Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. [18977979] Pediatrics 122(5): 1003-8 (2008)
2007 20	Mitochondrial disease: a practical approach for primary care physicians. [18055683] Pediatrics 120(6): 1326-33 (2007)
2005 21	Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients. [16264005] Pediatrics 116(5): 1170-7 (2005)
2004 22	Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. [15466086] Pediatrics 114(4): 925-31 (2004)
PMC 23	Mitochondrial hepatopathies: advances in genetics and pathogenesis. [17538929] Hepatology 45(6):1555-65 (2007)
1997 24	The kidney in mitochondrial cytopathies. [9083263] Kidney Int 51(4): 1000-7 (1997)
2004 25	MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. [15150004] AJR Am J Roentgenol 182(6): 1537-41 (2004)
2006 26	The role of mitochondria in health, ageing, and diseases affecting vision. [16782943] Br J Ophthalmol 90(7): 809-10 (2006)
2002 27	How mitochondrial damage affects cell function. [12372986] J Biomed Sci 9(6 Pt 1): 475-87 (2002)
2003 28	Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. [12533324] AJNR Am J Neuroradiol 24(1): 33-41 (2003)
2009 29	Pathogenic mutations of nuclear genes associated with mitochondrial disorders. [19280056] Acta Biochim Biophys Sin (Shanghai) 41(3): 179-87 (2009)
2011 30	Cardiological manifestations of mitochondrial respiratory chain disorders. [21842587] Acta Myol 30(1): 9-15 (2011)
2010 31	Pathogenesis and treatment of mitochondrial myopathies: recent advances. [21314015] Acta Myol 29(2): 333-8 (2010)
2005 32	Genetics of cerebrovascular disorders. [15667040] Mayo Clin Proc 80(1): 122-32 (2005)
2010 33	Nephrolithiasis related to inborn metabolic diseases. [19156444] Pediatr Nephrol 25(3): 415-24 (2010)
2010 34	Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies. [20396601] J Biomed Biotechnol 2010(-): 737385 (2010)
2010 35	A human mitochondriopathy caused by AIF mutation. [20835254] Cell Death Differ 17(10): 1525-8 (2010)
2011 36	Mitochondrial DNA mutations in disease and aging. [21606204] J Cell Biol 193(5): 809-18 (2011)
2009 37	Clinical and molecular aspects of diseases of mitochondrial DNA instability. [19664342] Chang Gung Med J 32(4): 354-69 (2009)
2010 38	Mitochondrial dysfunction in diabetes: from molecular mechanisms to functional significance and therapeutic opportunities. [19650713] Antioxid Redox Signal 12(4): 537-77 (2010)
2005 39	MIDD and MELAS: a clinical spectrum. [15897633] Intern Med 44(4): 276-7 (2005)
2003 40	Mitochondrial diseases--an expanding spectrum of disorders and affected genes. [12525864] Exp Physiol 88(1): 155-66 (2003)
2009 41	The pathophysiology of mitochondrial disease as modeled in the mouse. [19651984] Genes Dev 23(15): 1714-36 (2009)
2004 42	Genetic defects of cytochrome c oxidase assembly. [15119951] Physiol Res 53 Suppl 1(-): S213-23 (2004)
2009 43	Mitochondrial structural and functional dynamics in Huntington's disease. [19394359] Brain Res Rev 61(1): 33-48 (2009)
2008 44	Renal function and mitochondrial cytopathy (MC): more questions than answers? [18487272] QJM 101(10): 755-66 (2008)
2010 45	Genetic bases of mitochondrial respiratory chain disorders. [20093061] Diabetes Metab 36(2): 97-107 (2010)
2009 46	Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. [19336460] Brain 132(Pt 4): 833-42 (2009)
2005 47	Pathology of mitochondrial encephalomyopathies. [16018150] Can J Neurol Sci 32(2): 152-66 (2005)
2010 48	Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. [20065125] Arch Neurol 67(1): 19-24 (2010)
2009 49	Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice. [19471315] Eur J Hum Genet 17(12): 1550-9 (2009)
2009 50	Angelman syndrome (AS, MIM 105830). [19455185] Eur J Hum Genet 17(11): 1367-73 (2009)
2008 51	Inherited mitochondrial diseases of DNA replication. [17892433] Annu Rev Med 59(-): 131-46 (2008)
2010 52	The neuro-ophthalmology of mitochondrial disease. [20471050] Surv Ophthalmol 55(4): 299-334 (2010)
2011 53	Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis. [21732785] Arch Pathol Lab Med 135(7): 925-34 (2011)
2011 54	The Interface between Cytoskeletal Aberrations and Mitochondrial Dysfunction in Alzheimer's Disease and Related Disorders. [22110363] Exp Neurobiol 20(2): 67-80 (2011)
2010 55	Modeling mitochondrial encephalomyopathy in Drosophila. [20472065] Neurobiol Dis 40(1): 40-5 (2010)
2011 56	Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. [21112411] Prog Retin Eye Res 30(2): 81-114 (2011)
2009 57	The neurodegenerative mitochondriopathies. [19542616] J Alzheimers Dis 17(4): 737-51 (2009)
2005 58	Mitochondrial DNA mutations in human disease. [15861210] Nat Rev Genet 6(5): 389-402 (2005)
2011 59	Biochemical diagnosis of mitochondrial disorders. [20440652] J Inherit Metab Dis 34(2): 283-92 (2011)
2008 60	The in-depth evaluation of suspected mitochondrial disease. [18243024] Mol Genet Metab 94(1): 16-37 (2008)
2003 61	Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations. [14573777] J Mol Diagn 5(4): 197-208 (2003)
2010 62	Mitochondrial genetic diseases. [21045694] Curr Opin Pediatr 22(6): 711-6 (2010)
2010 63	Mitochondrial diseases and the role of the yeast models. [20946356] FEMS Yeast Res 10(8): 1006-22 (2010)

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