Phenotype variability in 130 adult patients with respiratory chain disorders, J Inherit Metab Dis, vol.24, pp.560-576, 2001. ,
Multisystem disorder in lateonset chronic progressive external ophthalmoplegia, Can J Neurol Sci, vol.38, pp.119-123, 2011. ,
Relation of impaired interorgan communication and parasympathetic activity in chronic heart failure and multiple-organ dysfunction syndrome, J Crit Care, vol.29, pp.367-373, 2014. ,
Mitochondrial DNA deletion mutations in articular chondrocytes of cartilage affected by osteoarthritis. Zhong Nan Da Xue Xue Bao Yi Xue Ban, vol.31, pp.640-644, 2006. ,
Accumulation of mitochondrial DNA with 4977-bp deletion in knee cartilage -an association with idiopathic osteoarthritis, Osteoarthritis Cartilage, vol.13, pp.1004-1011, 2005. ,
Mitochondrial diseases, Lancet, vol.379, pp.1825-1834, 2012. ,
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report, Mol Med Rep, vol.11, issue.5, pp.3741-3745, 2015. ,
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency, Mol Genet Metab, vol.106, pp.104-107, 2012. ,
Pearson syndrome in the neonatal period: two case reports and review of the literature, J Pediatr Hematol Oncol, vol.31, pp.947-951, 2009. ,
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate, J Inherit Metab Dis, vol.28, pp.1165-1166, 2005. ,
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation, J Child Neurol, vol.29, pp.1249-1256, 2014. ,
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series, Can J Anaesth, vol.58, pp.751-763, 2011. ,
, Neuropsychiatric Disease and Treatment, vol.146, issue.05, 2019.
Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation), Med Sci Monit, vol.8, pp.767-773, 2002. ,
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation, BMC Med Genet, vol.14, p.105, 2013. ,
External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation, J Neurol Sci, vol.197, pp.63-67, 2002. ,
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria, Pediatr Res, vol.66, pp.91-95, 2009. ,
Reversible multiorgan system involvement in a neonate with complex IV deficiency, Pediatr Neurol, vol.39, pp.368-370, 2008. ,
A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure, Arch Neurol, vol.63, pp.1194-1198, 2006. ,
A novel m.7539C.T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease, Neuromuscul Disord, vol.25, pp.81-84, 2015. ,
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood, JAMA Neurol, vol.70, pp.1556-1561, 2013. ,
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency, Eur J Hum Genet, vol.23, issue.7, pp.935-939, 2015. ,
Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course, Gene, vol.528, pp.364-366, 2013. ,
Mitochondrial disorders manifested as renal tubular acidosis and recurrent seizures, Chin Med J (Engl), vol.127, 1989. ,
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy, Am J Hum Genet, vol.93, pp.482-495, 2013. ,
Dilation of the aortic root in mitochondrial disease patients, Mol Genet Metab, vol.103, pp.167-170, 2011. ,
Morphological signs of mitochondrial cytopathy in skeletal muscles and microvessel walls in a patient with cerebral artery dissection associated with MELAS syndrome ,
, Arkh Patol, vol.74, pp.51-56, 2012.
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, J Neurol, vol.258, pp.912-914, 2011. ,
,
, Zh Nevrol Psikhiatr Im S S Korsakova, vol.110, issue.2, pp.3-11, 2010.
Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, Arch Neurol, vol.63, pp.281-283, 2006. ,
Hematological abnormalities in mitochondrial disorders, Singapore Med J, vol.56, pp.412-419, 2015. ,
Phenotypic heterogeneity of the 8344A.G mtDNA "MERRF" mutation, Neurology, vol.80, pp.2049-2054, 2013. ,
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway, Eur J Hum Genet, vol.19, pp.138-144, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00591692
Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature, Neurologist, vol.13, pp.33-36, 2007. ,
Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy, JAMA Neurol, vol.70, pp.1552-1555, 2013. ,
Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene, Neurology, vol.80, pp.1908-1910, 2013. ,
Distal weakness with respiratory insufficiency caused by the m.8344A.G "MERRF" mutation, Neuromuscul Disord, vol.24, pp.533-536, 2014. ,
A case of 3243A.G mutation in mtDNA presenting as apparently idiopathic hyperCKemia, J Neurol Sci, vol.338, pp.232-234, 2014. ,
Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions, Eur J Med Res, vol.11, pp.545-546, 2006. ,
Lactate increase and oxygen desaturation in mitochondrial disorders-evaluation of two diagnostic screening protocols, J Neurol, vol.253, pp.417-423, 2006. ,
A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations, Neuromuscul Disord, vol.22, pp.401-405, 2012. ,
Mitochondrial 3243A-.G mutation (MELAS mutation) associated with painful muscle stiffness, Neuromuscul Disord, vol.9, pp.305-307, 1999. ,
Oftalmoplejía externa progresiva y síndrome de Kearns-Sayre: estudio clínico y molecular de 6 casos [Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases ,
, Med Clin (Barc), vol.105, pp.180-184, 1995.
Mitochondrial disorders and epilepsy, Rev Neurol (Paris), vol.170, pp.375-380, 2014. ,
Mitochondrial epilepsy in pediatric and adult patients, Acta Neurol Scand, vol.128, pp.141-152, 2013. ,
Algorithme décisionnel des maladies mitochondriales les plus fréquentes [Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations ,
, Rev Neurol (Paris), vol.170, pp.381-389, 2014.
Novel (ovario) leukodystrophy related to AARS2 mutations, Neurology, vol.82, pp.2063-2071, 2014. ,
DOI : 10.1212/wnl.0000000000000497
URL : http://europepmc.org/articles/pmc4118500?pdf=render
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease, Proc Natl Acad Sci, vol.111, pp.18285-18290, 2014. ,
Mitochondrial DNA mutations and cognition: a case-series report, Arch Clin Neuropsychol, vol.29, pp.315-321, 2014. ,
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation, J Neurol, vol.261, pp.207-212, 2014. ,
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy, Seizure, vol.22, pp.483-486, 2013. ,
Diagnostic challenges in movement disorders: Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome, BMJ Case Rep, 2013. ,
The psychiatric manifestations of mitochondrial disorders: a case and review of the literature, J Clin Psychiatry, vol.73, pp.506-512, 2012. ,
Mutisme et troubles du comportement aigus révélant un syndrome MELAS [Mutism and acute behavioral disorders revealing MELAS syndrome, Rev Neurol (Paris), vol.167, pp.847-851, 2011. ,
DOI : 10.1016/j.neurol.2011.01.013
, on 05-Mar-2019 For personal use only. Finsterer and Zarrouk-Mahjoub
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions, Brain, vol.135, pp.3404-3415, 2012. ,
DOI : 10.1093/brain/aws258
URL : https://academic.oup.com/brain/article-pdf/135/11/3404/762228/aws258.pdf
Dilative arteriopathy and leucencephalopathy as manifestations of a neurometabolic disease, Open Neurol J, vol.9, pp.28-31, 2015. ,
Retinal ganglion cell layer and visual function in patients with progressive external ophthalmoplegia caused by common mtDNA deletion ,
, Ideggyogy Sz, vol.67, pp.335-341, 2014.
Mitochondrial disorders affecting the nervous system, Semin Neurol, vol.34, pp.321-340, 2014. ,
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy, Brain, vol.137, pp.1019-1029, 2014. ,
Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease, J Child Neurol, vol.25, pp.752-756, 2010. ,
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism, J Child Neurol, vol.21, pp.983-985, 2006. ,
Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood, Pediatr Nephrol, vol.28, pp.515-519, 2013. ,
Mitochondrial DNA deletion associated oxidative stress and severe male osteoporosis, Osteoporos Int, vol.10, pp.143-149, 1999. ,
Acute manifestation of LHON and coincidental finding of a pituitary adenoma: a case report, Bull Soc Belge Ophtalmol, issue.277, pp.35-42, 2000. ,
A 9-bp deletion homoplasmy in women with polycystic ovary syndrome revealed by mitochondrial genome-mutation screen, Biochem Genet, vol.48, pp.157-163, 2010. ,
Complex mitochondriopathy associated with 4 mtDNA transitions, Eur Neurol, vol.44, pp.37-41, 2000. ,
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease, Eur J Heart Fail, vol.12, pp.114-121, 2010. ,
A new duplication in the mitochondrially encoded tRNA proline gene in a patient with dilated cardiomyopathy, Mitochondrial DNA, vol.24, pp.46-49, 2013. ,
Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management, Eur Heart J, vol.33, pp.3023-3033, 2012. ,
Presence of mutation m.14484T.C in a Chinese family with maternally inherited essential hypertension but no expression of LHON, Biochim Biophys Acta, vol.1822, pp.1535-1543, 2012. ,
Transition m.3308T.C in the ND1 gene is associated with left ventricular hypertrabeculation/ noncompaction, Cardiology, vol.118, pp.153-158, 2011. ,
Pulmonary hypertension in a child with mitochondrial A3243G point mutation, Brain Dev, vol.34, pp.866-868, 2012. ,
Coronary heart disease is associated with a mutation in mitochondrial tRNA, Hum Mol Genet, vol.22, pp.4064-4073, 2013. ,
Identification and biochemical characterization of the novel mutation m.8839G.C in the mitochondrial ATP6 gene associated with NARP syndrome, Genes Brain Behav, vol.12, pp.812-820, 2013. ,
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene, Eur J Hum Genet, vol.22, pp.184-191, 2014. ,
A second MNGIE patient without typical mitochondrial skeletal muscle involvement, Neurol Sci, vol.31, pp.491-494, 2010. ,
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis, Diabetes Metab, vol.34, pp.620-626, 2008. ,
Hepatic failure and enhanced oxidative stress in mitochondrial diabetes, Endocr J, vol.55, pp.509-514, 2008. ,
A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome, Eur J Hum Genet, vol.12, pp.509-512, 2004. ,
Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy, Am J Surg Pathol, vol.22, pp.1141-1147, 1998. ,
, Clin Neurol Neurosurg, vol.107, pp.181-186, 2005.
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion, Clin Neurol Neurosurg, vol.115, pp.1490-1492, 2013. ,
Association of the mtDNA m.4171C.A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions, BMC Neurol, vol.14, p.116, 2014. ,
A novel mitochondrial mutation m.8989G.C associated with neuropathy, ataxia, retinitis pigmentosa -the NARP syndrome, Gene, vol.515, pp.372-375, 2013. ,
Glaucoma progression associated with Leber's hereditary optic neuropathy, Int Ophthalmol, vol.33, pp.75-77, 2013. ,
DOI : 10.1007/s10792-012-9623-4
Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss, J Laryngol Otol, vol.124, pp.1007-1009, 2010. ,
DOI : 10.1017/s0022215110001477
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome, BMC Nephrol, vol.14, p.195, 2013. ,
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child, Pediatr Neonatol, vol.53, pp.264-268, 2012. ,
A case of Pearson syndrome associated with multiple renal cysts, Pediatr Nephrol, vol.10, pp.637-638, 1996. ,
Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease, Biochim Biophys Acta, vol.1647, pp.70-75, 2003. ,
Mitochondrial mutations are associated with atherosclerotic lesions in the human aorta, Clin Dev Immunol, p.832464, 2012. ,
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G.A) in the mitochondrial encoded ATP6 gene, Mol Genet Metab, vol.113, pp.207-212, 2014. ,
The association between haematological manifestation and mtDNA deletions in Pearson syndrome, J Inherit Metab Dis, vol.20, pp.697-703, 1997. ,
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations, Brain Dev, vol.34, pp.861-865, 2012. ,
Mitochondrial mutagenesis correlates with the local inflammatory environment in arthritis, Ann Rheum Dis, vol.71, pp.582-588, 2012. ,
A new mitochondrial mutation in a patient with diabetes mellitus, deafness, hydronephrosis and joint contractures, J Pediatr Endocrinol Metab, vol.21, pp.1185-1189, 2008. ,
Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A . G tRNA (Lys) mutation, Iran J Neurol, vol.16, issue.1, pp.45-49, 2017. ,
, Neuropsychiatric Disease and Treatment, vol.146, issue.05, 2019.
MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes ,
, Ann Dermatol Venereol, vol.128, pp.1031-1035, 2001.
Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions, Eur J Pediatr, vol.154, pp.35-42, 1995. ,
Premature ageing in mice expressing defective mitochondrial DNA polymerase, Nature, vol.429, pp.417-423, 2004. ,
Madarosis from mitochondriopathy, Acta Ophthalmol Scand, vol.83, pp.628-630, 2005. ,
, Neuropsychiatric Disease and Treatment, vol.146, issue.05, 2019.