{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T16:37:24Z","timestamp":1770914244549,"version":"3.50.1"},"reference-count":140,"publisher":"Elsevier BV","issue":"5","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Revue Neurologique"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1016\/j.neurol.2014.03.007","type":"journal-article","created":{"date-parts":[[2014,4,29]],"date-time":"2014-04-29T11:49:27Z","timestamp":1398772167000},"page":"323-338","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["An overview of neurological and neuromuscular signs in mitochondrial diseases"],"prefix":"10.1016","volume":"170","author":[{"given":"A.","family":"Chaussenot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Paquis-Flucklinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurol.2014.03.007_bib0005","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/331717a0","article-title":"Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies","volume":"331","author":"Holt","year":"1988","journal-title":"Nature"},{"key":"10.1016\/j.neurol.2014.03.007_bib0010","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"issue":"9529","key":"10.1016\/j.neurol.2014.03.007_bib0015","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/S0140-6736(06)68970-8","article-title":"Mitochondrial disease","volume":"368","author":"Schapira","year":"2006","journal-title":"Lancet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0020","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1146\/annurev.neuro.30.051606.094302","article-title":"Mitochondrial disorders in the nervous system","volume":"31","author":"DiMauro","year":"2008","journal-title":"Annu Rev Neurosci"},{"key":"10.1016\/j.neurol.2014.03.007_bib0025","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1001\/archopht.1958.00940080296016","article-title":"Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases","volume":"60","author":"Kearns","year":"1958","journal-title":"AMA Arch Ophthalmol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0030","series-title":"Mitochondrial pathology in muscle diseases","first-page":"141","article-title":"Diverse clinical disorders associated with morphological abnormalities in mitochondria","author":"Rowland","year":"1983"},{"issue":"10","key":"10.1016\/j.neurol.2014.03.007_bib0035","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmedgenet-2013-101604","article-title":"Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders","volume":"50","author":"Bannwarth","year":"2013","journal-title":"J Med Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0040","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1056\/NEJM199909303411404","article-title":"Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA","volume":"341","author":"Andreu","year":"1999","journal-title":"New Eng J Med"},{"key":"10.1016\/j.neurol.2014.03.007_bib0045","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1136\/jmg.39.11.812","article-title":"Childhood-onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene","volume":"39","author":"Horvath","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0050","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/sj.ejhg.5201185","article-title":"A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome","volume":"12","author":"Maniura-Weber","year":"2004","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.neurol.2014.03.007_bib0055","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1007\/s00415-009-5023-8","article-title":"Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia","volume":"256","author":"Horv\u00e1th","year":"2009","journal-title":"Neurol"},{"issue":"Pt 11","key":"10.1016\/j.neurol.2014.03.007_bib0060","doi-asserted-by":"crossref","first-page":"3165","DOI":"10.1093\/brain\/awp221","article-title":"Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy","volume":"132","author":"Horvath","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2014.03.007_bib0065","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng751","article-title":"Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy","volume":"29","author":"Saada","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0070","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1001\/archneur.60.7.1007","article-title":"Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene","volume":"60","author":"Mancuso","year":"2003","journal-title":"Arch Neurol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0075","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1001\/archneur.63.8.1122","article-title":"Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene","volume":"63","author":"Oskoui","year":"2006","journal-title":"Arch Neurol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0080","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1093\/brain\/awn236","article-title":"Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome","volume":"131","author":"G\u00f6tz","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2014.03.007_bib0085","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1086\/430843","article-title":"Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion","volume":"76","author":"Elpeleg","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0090","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1086\/519222","article-title":"Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion","volume":"81","author":"Ostergaard","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0095","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/ng2040","article-title":"Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion","volume":"39","author":"Bourdon","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0100","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.nmd.2008.04.006","article-title":"Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene","volume":"18","author":"Bornstein","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.neurol.2014.03.007_bib0105","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.ymgme.2009.06.012","article-title":"A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy","volume":"98","author":"Acham-Roschitz","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.neurol.2014.03.007_bib0110","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.nmd.2008.11.014","article-title":"A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion","volume":"19","author":"Kollberg","year":"2009","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.neurol.2014.03.007_bib0115","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s10545-008-1038-z","article-title":"Clinical and molecular features of mitochondrial DNA depletion syndromes","volume":"32","author":"Spinazzola","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.neurol.2014.03.007_bib0120","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1212\/WNL.0b013e318248df2b","article-title":"Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum","volume":"78","author":"Behin","year":"2012","journal-title":"Neurology"},{"issue":"1\u20132","key":"10.1016\/j.neurol.2014.03.007_bib0125","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ymgme.2012.04.019","article-title":"Recessive deoxyguanosine kinase deficiency causes juvenile-onset mitochondrial myopathy","volume":"107","author":"Buchaklian","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"Pt 11","key":"10.1016\/j.neurol.2014.03.007_bib0130","doi-asserted-by":"crossref","first-page":"3404","DOI":"10.1093\/brain\/aws258","article-title":"Next generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions","volume":"135","author":"Ronchi","year":"2012","journal-title":"Brain"},{"issue":"5","key":"10.1016\/j.neurol.2014.03.007_bib0135","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1016\/j.ajhg.2009.04.004","article-title":"The mitochondrial disulfide relay system protein GFER is mutated in autosomal recessive myopathy with cataract and combined respiratory chain deficiency","volume":"84","author":"Di Fonzo","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.neurol.2014.03.007_bib0140","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1212\/01.WNL.0000134607.76780.B2","article-title":"Progression despite replacement of a myopathic form of coenzyme Q10 defect","volume":"63","author":"Aur\u00e9","year":"2004","journal-title":"Neurology"},{"issue":"1\u20134","key":"10.1016\/j.neurol.2014.03.007_bib0145","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/biof.5520320113","article-title":"Human CoQ10 deficiencies","volume":"32","author":"Quinzii","year":"2008","journal-title":"Biofactors."},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0150","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ajhg.2010.06.001","article-title":"Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia: MLASA syndrome","volume":"87","author":"Riley","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0155","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/ajmg.a.20368","article-title":"Mitochondrial myopathy and sideroblastic anemia","volume":"125","author":"Casas","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0160","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1186\/1750-1172-8-193","article-title":"Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia","volume":"8","author":"Riley","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"Pt 1","key":"10.1016\/j.neurol.2014.03.007_bib0165","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1093\/brain\/awq273","article-title":"Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene","volume":"134","author":"Gerards","year":"2011","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0170","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.ajhg.2007.12.012","article-title":"Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance","volume":"82","author":"Mochel","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0175","article-title":"Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy","volume":"2013","author":"Spiegel","year":"2013","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"10.1016\/j.neurol.2014.03.007_bib0180","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/ng.2851","article-title":"UK10K Consortium. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling","volume":"46","author":"Logan","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0185","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1002\/humu.9203","article-title":"POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions","volume":"22","author":"Di Fonzo","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.neurol.2014.03.007_bib0190","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1093\/brain\/awl088","article-title":"Phenotypic spectrum associated with mutations of the mitochondrial polymerase \u03b3 gene","volume":"129","author":"Horvath","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2014.03.007_bib0195","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1093\/hmg\/ddi196","article-title":"Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome","volume":"14","author":"Luoma","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0200","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0960-8966(02)00216-X","article-title":"Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia","volume":"13","author":"Van Goethem","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.neurol.2014.03.007_bib0205","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S0140-6736(04)16983-3","article-title":"Parkinsonism, premature menopause, and mitochondrial DNA polymerase-gamma mutations: clinical and molecular genetic study","volume":"364","author":"Luoma","year":"2004","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.neurol.2014.03.007_bib0210","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/ana.20831","article-title":"Early-onset familial parkinsonism due to POLG mutations","volume":"59","author":"Davidzon","year":"2006","journal-title":"Ann Neurol"},{"issue":"4","key":"10.1016\/j.neurol.2014.03.007_bib0215","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1038\/ejhg.2013.171","article-title":"Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort","volume":"22","author":"Rouzier","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0220","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1212\/WNL.0b013e31821e558b","article-title":"RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions","volume":"76","author":"Fratter","year":"2011","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.neurol.2014.03.007_bib0225","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1136\/jmg.2010.088328","article-title":"Kearns-Sayre syndrome caused by defective R1\/p53R2 assembly","volume":"48","author":"Pitceathly","year":"2011","journal-title":"J Med Genet"},{"issue":"Pt 11","key":"10.1016\/j.neurol.2014.03.007_bib0230","doi-asserted-by":"crossref","first-page":"3392","DOI":"10.1093\/brain\/aws231","article-title":"Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics","volume":"135","author":"Pitceathly","year":"2012","journal-title":"Brain"},{"issue":"12","key":"10.1016\/j.neurol.2014.03.007_bib0235","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1001\/archneurol.2012.405","article-title":"MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions","volume":"69","author":"Garone","year":"2012","journal-title":"Arch Neurol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0240","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1093\/hmg\/ddr438","article-title":"Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions","volume":"21","author":"Tyynismaa","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"2","key":"10.1016\/j.neurol.2014.03.007_bib0245","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/ng.2501","article-title":"Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease","volume":"45","author":"Kornblum","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0250","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1097\/01.nrl.0000106919.06469.04","article-title":"MNGIE: a disease of two genomes","volume":"10","author":"Hirano","year":"2004","journal-title":"Neurologist"},{"issue":"Pt 11","key":"10.1016\/j.neurol.2014.03.007_bib0255","doi-asserted-by":"crossref","first-page":"3326","DOI":"10.1093\/brain\/awr245","article-title":"Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy","volume":"134","author":"Garone","year":"2011","journal-title":"Brain"},{"issue":"8","key":"10.1016\/j.neurol.2014.03.007_bib0260","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1001\/archneurol.2009.139","article-title":"Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B","volume":"66","author":"Shaibani","year":"2009","journal-title":"Arch Neurol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0265","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/sj.ejhg.5201002","article-title":"Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy","volume":"11","author":"Van Goethem","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0270","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1212\/01.wnl.0000345002.47396.e1","article-title":"Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations","volume":"72","author":"Giordano","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2014.03.007_bib0275","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/90034","article-title":"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions","volume":"28","author":"Van Goethem","year":"2001","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.neurol.2014.03.007_bib0280","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.ajhg.2012.12.014","article-title":"Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability","volume":"92","author":"Ronchi","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.neurol.2014.03.007_bib0285","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1002\/ajmg.a.32731","article-title":"Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease","volume":"149A","author":"Van Hove","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.neurol.2014.03.007_bib0290","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.neulet.2013.09.034","article-title":"Twinkle mutation in an Italian family with external progressive ophthalmoplegia and Parkinsonism: a case report and an update on the state of art","volume":"556","author":"Kiferle","year":"2013","journal-title":"Neurosci Lett"},{"key":"10.1016\/j.neurol.2014.03.007_bib0295","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1126\/science.289.5480.782","article-title":"Role of adenine nucleotide translocator 1 in mtDNA maintenance","volume":"289","author":"Kaukonen","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.neurol.2014.03.007_bib0300","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.nmd.2004.12.004","article-title":"A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia","volume":"15","author":"Deschauer","year":"2005","journal-title":"Neuromuscul Disord"},{"issue":"15","key":"10.1016\/j.neurol.2014.03.007_bib0305","doi-asserted-by":"crossref","first-page":"2964","DOI":"10.1093\/hmg\/ddr200","article-title":"adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria","volume":"20","author":"Kawamata","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0310","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0022-510X(96)00032-9","article-title":"Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features","volume":"143","author":"Chalmers","year":"1996","journal-title":"J Neurol Sci"},{"issue":"2","key":"10.1016\/j.neurol.2014.03.007_bib0315","doi-asserted-by":"crossref","first-page":"R244","DOI":"10.1093\/hmg\/ddl233","article-title":"Mitochondrial DNA polymerase-gamma and human disease","volume":"15","author":"Hudson","year":"2006","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0320","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1136\/jnnp-2012-303232","article-title":"Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase \u03b3 mutations","volume":"84","author":"Pitceathly","year":"2013","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.neurol.2014.03.007_bib0325","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1086\/504303","article-title":"Mutant POLG2 disrupts DNA polymerase subunits and causes progressive external ophthalmoplegia","volume":"78","author":"Longley","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0330","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1007\/s00415-010-5565-9","article-title":"Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2","volume":"257","author":"Walter","year":"2010","journal-title":"J Neurol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0335","doi-asserted-by":"crossref","first-page":"3052","DOI":"10.1093\/hmg\/ddr209","article-title":"Biochemical analysis of human POLG2 variants associated with mitochondrial disease","volume":"20","author":"Young","year":"2011","journal-title":"Hum Mol Genet"},{"issue":"2","key":"10.1016\/j.neurol.2014.03.007_bib0340","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.mito.2011.11.006","article-title":"A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase \u03b3 subunits","volume":"12","author":"Craig","year":"2012","journal-title":"Mitochondrion"},{"key":"10.1016\/j.neurol.2014.03.007_bib0345","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1093\/brain\/awm272","article-title":"Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance","volume":"131","author":"Hudson","year":"2008","journal-title":"Brain"},{"issue":"Pt 1","key":"10.1016\/j.neurol.2014.03.007_bib0350","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/brain\/awr323","article-title":"The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy \u2018plus\u2019 phenotype","volume":"135","author":"Rouzier","year":"2012","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0355","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1212\/WNL.49.1.270","article-title":"Heterogeneous clinical presentation of the mtDNA NARP\/T8993G mutation","volume":"49","author":"Santorelli","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2014.03.007_bib0360","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/ana.20555","article-title":"Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation","volume":"58","author":"Rantamaki","year":"2005","journal-title":"Ann Neurol"},{"issue":"7","key":"10.1016\/j.neurol.2014.03.007_bib0365","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1212\/01.WNL.0000156516.77696.5A","article-title":"Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase-gamma mutations","volume":"64","author":"Winterthun","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2014.03.007_bib0370","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1086\/444548","article-title":"Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin","volume":"77","author":"Hakonen","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0375","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1212\/01.WNL.0000140494.58732.83","article-title":"POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement","volume":"63","author":"Van Goethem","year":"2004","journal-title":"Neurology"},{"issue":"20","key":"10.1016\/j.neurol.2014.03.007_bib0380","doi-asserted-by":"crossref","first-page":"2981","DOI":"10.1093\/hmg\/ddi328","article-title":"Infantile-onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky","volume":"14","author":"Nikali","year":"2005","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0385","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/0022-510X(94)90156-2","article-title":"Infantile-onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease","volume":"121","author":"Koskinen","year":"1994","journal-title":"J Neurol Sci"},{"issue":"Pt 11","key":"10.1016\/j.neurol.2014.03.007_bib0390","doi-asserted-by":"crossref","first-page":"3032","DOI":"10.1093\/brain\/awm242","article-title":"Recessive Twinkle mutations in early-onset encephalopathy with mtDNA depletion","volume":"130","author":"Hakonen","year":"2007","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0395","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ajhg.2007.12.022","article-title":"CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures","volume":"82","author":"Mollet","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0400","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.ajhg.2007.12.024","article-title":"ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency","volume":"82","author":"Lagier-Tourenne","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.neurol.2014.03.007_bib0405","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1093\/hmg\/dds473","article-title":"A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia","volume":"22","author":"Szklarczyk","year":"2013","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0410","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/s00415-013-7177-7","article-title":"Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation","volume":"261","author":"Doss","year":"2014","journal-title":"J Neurol"},{"issue":"10","key":"10.1016\/j.neurol.2014.03.007_bib0415","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/ng.659","article-title":"High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency","volume":"42","author":"Calvo","year":"2010","journal-title":"Nat Genet"},{"issue":"17","key":"10.1016\/j.neurol.2014.03.007_bib0420","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1212\/WNL.0b013e31828f1914","article-title":"NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern","volume":"80","author":"Kevelam","year":"2013","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0425","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng.761","article-title":"Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies","volume":"43","author":"Ghezzi","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0430","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1136\/jmg.2005.036657","article-title":"Mutation of DNAJC19, a human homologue of yeast inner mitochondrial co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition","volume":"43","author":"Davey","year":"2006","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.neurol.2014.03.007_bib0435","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/pr.2012.92","article-title":"New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies","volume":"72","author":"Ojala","year":"2012","journal-title":"Pediatr Res"},{"issue":"4","key":"10.1016\/j.neurol.2014.03.007_bib0440","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/ng2013","article-title":"Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","volume":"39","author":"Scheper","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0445","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1002\/ana.10456","article-title":"A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate","volume":"53","author":"Van der Knaap","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0450","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1212\/01.WNL.0000134658.35601.41","article-title":"Five new cases of a recently described leukoencephalopathy with high brain lactate","volume":"63","author":"Linnankivi","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2014.03.007_bib0455","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1055\/s-2003-43548","article-title":"Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate","volume":"35","author":"Serkov","year":"2004","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.neurol.2014.03.007_bib0460","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1590\/S0004-282X2007000300028","article-title":"Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients","volume":"65","author":"Tavora","year":"2007","journal-title":"Arq Neuropsiquiatr"},{"key":"10.1016\/j.neurol.2014.03.007_bib0465","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.jns.2008.06.002","article-title":"Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings","volume":"273","author":"Uluc","year":"2008","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.neurol.2014.03.007_bib0470","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1136\/jnnp.2005.078568","article-title":"Adult-onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate","volume":"77","author":"Petzold","year":"2006","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.neurol.2014.03.007_bib0475","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1159\/000102171","article-title":"Familial, adult-onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression","volume":"58","author":"Labauge","year":"2007","journal-title":"Eur Neurol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0480","doi-asserted-by":"crossref","first-page":"2332","DOI":"10.1093\/brain\/awl110","article-title":"A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34","volume":"129","author":"Thiffault","year":"2006","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0485","doi-asserted-by":"crossref","first-page":"e1001288","DOI":"10.1371\/journal.pbio.1001288","article-title":"Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans","volume":"10","author":"Bayat","year":"2012","journal-title":"PLoS Biol"},{"issue":"5","key":"10.1016\/j.neurol.2014.03.007_bib0490","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/j.ajhg.2010.09.013","article-title":"Defective mitochondrial mRNA maturation is associated with spastic ataxia","volume":"87","author":"Crosby","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2014.03.007_bib0495","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/brain\/awh651","article-title":"SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2","volume":"129","author":"Cagnoli","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2014.03.007_bib0500","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1002\/humu.21342","article-title":"Missense mutations in the AFG3L2 proteolytic domain account for \u223c1.5% of European autosomal dominant cerebellar ataxias","volume":"31","author":"Cagnoli","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.neurol.2014.03.007_bib0505","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/ng.544","article-title":"Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28","volume":"42","author":"Di Bella","year":"2010","journal-title":"Nat Genet"},{"issue":"10","key":"10.1016\/j.neurol.2014.03.007_bib0510","doi-asserted-by":"crossref","first-page":"e1002325","DOI":"10.1371\/journal.pgen.1002325","article-title":"Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia neuropathy syndrome linked to mitochondrial m-AAA proteases","volume":"7","author":"Pierson","year":"2011","journal-title":"PLoS Genet"},{"issue":"Pt 3","key":"10.1016\/j.neurol.2014.03.007_bib0515","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1093\/brain\/awn007","article-title":"POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection","volume":"131","author":"Engelsen","year":"2008","journal-title":"Brain"},{"issue":"Suppl.\u00a04","key":"10.1016\/j.neurol.2014.03.007_bib0520","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1111\/j.1528-1167.2012.03618.x","article-title":"Mitochondrial diseases and epilepsy","volume":"53","author":"Bindoff","year":"2012","journal-title":"Epilepsia"},{"issue":"5","key":"10.1016\/j.neurol.2014.03.007_bib0525","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1469-8749.2011.04214.x","article-title":"Mitochondrial disease and epilepsy","volume":"54","author":"Rahman","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0530","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/0092-8674(90)90059-N","article-title":"Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation","volume":"61","author":"Shoffner","year":"1990","journal-title":"Cell"},{"key":"10.1016\/j.neurol.2014.03.007_bib0535","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/brain\/awh410","article-title":"Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma","volume":"128","author":"Ferrari","year":"2005","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2014.03.007_bib0540","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1212\/01.wnl.0000182814.55361.70","article-title":"POLG mutations in Alpers syndrome","volume":"65","author":"Nguyen","year":"2005","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0545","doi-asserted-by":"crossref","first-page":"64","DOI":"10.3109\/10409238.2011.632763","article-title":"Defects in mitochondrial DNA replication and human disease","volume":"47","author":"Copeland","year":"2012","journal-title":"Crit Rev Biochem Mol Biol"},{"key":"10.1016\/j.neurol.2014.03.007_bib0550","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1093\/brain\/awl097","article-title":"The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases","volume":"129","author":"Tzoulis","year":"2006","journal-title":"Brain"},{"issue":"4","key":"10.1016\/j.neurol.2014.03.007_bib0555","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/ana.410160409","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome","volume":"16","author":"Pavlakis","year":"1984","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0560","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1046\/j.1365-2796.2003.01095.x","article-title":"Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease","volume":"253","author":"Garc\u00eda-Velasco","year":"2003","journal-title":"J Intern Med"},{"issue":"9","key":"10.1016\/j.neurol.2014.03.007_bib0565","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1212\/01.WNL.0000091888.26232.FE","article-title":"Slowly progressive spread of the stroke-like lesions in MELAS","volume":"61","author":"Iizuka","year":"2003","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0570","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0022-510X(03)00218-1","article-title":"Distinguishing ischemic stroke from the stroke-like lesions of MELAS using apparent diffusion coefficient mapping","volume":"216","author":"Kolb","year":"2003","journal-title":"J Neurol Sci"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0575","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1007\/s00415-013-7225-3","article-title":"The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?","volume":"261","author":"Mancuso","year":"2014","journal-title":"J Neurol"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0580","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/ana.410390311","article-title":"Leigh syndrome: clinical features and biochemical and DNA abnormalities","volume":"39","author":"Rahman","year":"1996","journal-title":"Ann Neurol"},{"issue":"5","key":"10.1016\/j.neurol.2014.03.007_bib0585","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/j.pediatrneurol.2004.12.009","article-title":"Atypical presentations of leigh syndrome: a case series and review","volume":"32","author":"Huntsman","year":"2005","journal-title":"Pediatr Neurol"},{"issue":"6","key":"10.1016\/j.neurol.2014.03.007_bib0590","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1002\/ana.410340612","article-title":"The mutation at nt8993 of mitochondrial DNA is a common cause of Leigh's syndrome","volume":"34","author":"Santorelli","year":"1993","journal-title":"Ann Neurol"},{"issue":"7","key":"10.1016\/j.neurol.2014.03.007_bib0595","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1038\/ng.2325","article-title":"Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness","volume":"44","author":"Wortmann","year":"2012","journal-title":"Nat Genet"},{"issue":"11","key":"10.1016\/j.neurol.2014.03.007_bib0600","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1001\/archneur.61.11.1777","article-title":"A novel polymerase-gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism","volume":"61","author":"Mancuso","year":"2004","journal-title":"Arch Neurol"},{"issue":"7","key":"10.1016\/j.neurol.2014.03.007_bib0605","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1007\/s00415-013-6975-2","article-title":"Autosomal dominant mutations in POLG and C10orf2: association with late-onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients","volume":"260","author":"Brandon","year":"2013","journal-title":"J Neurol"},{"issue":"7","key":"10.1016\/j.neurol.2014.03.007_bib0610","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1001\/archneur.64.7.998","article-title":"Familial Parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle","volume":"64","author":"Baloh","year":"2007","journal-title":"Arch Neurol"},{"issue":"2","key":"10.1016\/j.neurol.2014.03.007_bib0615","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/mds.22198","article-title":"Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation","volume":"24","author":"Vandenberghe","year":"2009","journal-title":"Mov Disord"},{"issue":"2","key":"10.1016\/j.neurol.2014.03.007_bib0620","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/humu.10246","article-title":"Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2\/Twinkle","volume":"22","author":"Van Goethem","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.neurol.2014.03.007_bib0625","doi-asserted-by":"crossref","first-page":"1787","DOI":"10.1212\/WNL.53.8.1787","article-title":"Familial multisystem degeneration with Parkinsonism associated with the 11778 mitochondrial DNA mutation","volume":"53","author":"Simon","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2014.03.007_bib0630","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1002\/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0","article-title":"A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness, and neuropathy","volume":"48","author":"Thyagarajan","year":"2000","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0635","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.mito.2010.07.006","article-title":"Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation","volume":"11","author":"Verny","year":"2011","journal-title":"Mitochondrion."},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0640","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/0022-510X(92)90265-M","article-title":"Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings","volume":"113","author":"Bruyn","year":"1992","journal-title":"J Neurol Sci"},{"issue":"12","key":"10.1016\/j.neurol.2014.03.007_bib0645","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1136\/jmedgenet-2012-101212","article-title":"A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)","volume":"49","author":"Shimazaki","year":"2012","journal-title":"J Med Genet"},{"issue":"11\u201312","key":"10.1016\/j.neurol.2014.03.007_bib0650","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1007\/s00438-012-0723-7","article-title":"A possible role for mitochondrial dysfunction in migraine","volume":"287","author":"Stuart","year":"2012","journal-title":"Mol Genet Genomics"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0655","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0887-8994(96)00046-X","article-title":"Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction","volume":"14","author":"Zelnik","year":"1996","journal-title":"Pediatr Neurol"},{"issue":"1\u20132","key":"10.1016\/j.neurol.2014.03.007_bib0660","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.jns.2009.02.347","article-title":"Mitochondrial disorders, cognitive impairment and dementia","volume":"283","author":"Finsterer","year":"2009","journal-title":"J Neurol Sci"},{"issue":"4","key":"10.1016\/j.neurol.2014.03.007_bib0665","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1176\/appi.neuropsych.11110345","article-title":"The psychiatric presentation of mitochondrial disorders in adults","volume":"24","author":"Anglin","year":"2012","journal-title":"J Neuropsychiatry Clin Neurosci"},{"issue":"7","key":"10.1016\/j.neurol.2014.03.007_bib0670","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.nmd.2012.03.006","article-title":"MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle","volume":"22","author":"Blakely","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.neurol.2014.03.007_bib0675","doi-asserted-by":"crossref","DOI":"10.1007\/8904_2013_267","article-title":"Adult-onset fatal neurohepatopathy in a woman caused by MPV17 mutation","author":"Mendelsohn","year":"2013","journal-title":"JIMD Rep"},{"issue":"12","key":"10.1016\/j.neurol.2014.03.007_bib0680","first-page":"1556","article-title":"COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood","volume":"70","author":"Pitceathly","year":"2013","journal-title":"JAMA Neurol"},{"issue":"11","key":"10.1016\/j.neurol.2014.03.007_bib0685","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1212\/WNL.0b013e3182698d8d","article-title":"Genetic dysfunction of MTATP6 causes axonal Charcot-Marie-Tooth disease","volume":"79","author":"Pitceathly","year":"2012","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.neurol.2014.03.007_bib0690","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/ana.410430119","article-title":"Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease","volume":"43","author":"Comi","year":"1998","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1016\/j.neurol.2014.03.007_bib0695","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/ajmg.a.20466","article-title":"Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype","volume":"125A","author":"Tarnopolsky","year":"2004","journal-title":"Am J Med Genet A"},{"issue":"8","key":"10.1016\/j.neurol.2014.03.007_bib0700","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1212\/01.WNL.0000028689.93049.9A","article-title":"Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA","volume":"59","author":"Mancuso","year":"2002","journal-title":"Neurology"}],"container-title":["Revue Neurologique"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378714008133?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378714008133?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,4]],"date-time":"2018-10-04T10:57:37Z","timestamp":1538650657000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0035378714008133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5]]},"references-count":140,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["S0035378714008133"],"URL":"https:\/\/doi.org\/10.1016\/j.neurol.2014.03.007","relation":{},"ISSN":["0035-3787"],"issn-type":[{"value":"0035-3787","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An overview of neurological and neuromuscular signs in mitochondrial diseases","name":"articletitle","label":"Article Title"},{"value":"Revue Neurologique","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurol.2014.03.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}