{"id":"https://openalex.org/W1971069424","doi":"https://doi.org/10.1097/wno.0b013e31820c511d","title":"Leber Hereditary Optic Neuropathy: Some New Observations","display_name":"Leber Hereditary Optic Neuropathy: Some New Observations","publication_year":2011,"publication_date":"2011-02-11","ids":{"openalex":"https://openalex.org/W1971069424","doi":"https://doi.org/10.1097/wno.0b013e31820c511d","mag":"1971069424","pmid":"https://pubmed.ncbi.nlm.nih.gov/21317730"},"language":"en","primary_location":{"id":"doi:10.1097/wno.0b013e31820c511d","doi":"https://doi.org/10.1097/wno.0b013e31820c511d","is_oa":false,"landing_page_url":"https://doi.org/10.1097/wno.0b013e31820c511d","pdf_url":null,"source":{"id":"https://openalex.org/S195816289","display_name":"Journal of Neuro-Ophthalmology","issn_l":"1070-8022","issn":["1070-8022","1536-5166"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neuro-Ophthalmology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061016538","display_name":"Nancy J. Newman","orcid":"https://orcid.org/0000-0003-4898-7839","observed_orcids":["https://orcid.org/0000-0003-4898-7839"]},"institutions":[{"id":"https://openalex.org/I150468666","display_name":"Emory University","ror":"https://ror.org/03czfpz43","country_code":"US","type":"education","lineage":["https://openalex.org/I150468666"]},{"id":"https://openalex.org/I2802577590","display_name":"Research to Prevent Blindness","ror":"https://ror.org/04drjs621","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2802577590"]},{"id":"https://openalex.org/I4210094864","display_name":"Emory Eye Center","ror":"https://ror.org/00hr6kp69","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I132943300","https://openalex.org/I150468666","https://openalex.org/I4210094864","https://openalex.org/I4210109911"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Nancy J Newman","raw_affiliation_strings":["Departments of Ophthalmology, Neurology, and Neurological Surgery, Emory University School of Medicine, Atlanta, Georgia","Nancy J. Newman, MD, Neuro-Ophthalmology Unit, Emory Eye Center, 1365-B Clifton Road, NE, Atlanta, GA 30322; E-mail: [email\u00a0protected]","The author reports no conflicts of interest","Dr. Newman is a recipient of a Research to Prevent Blindness Lew R. Wasserman Merit Award","E-mail: [email\u00a0protected]","Supported in part by a departmental grant (Department of Ophthalmology) from the Research to Prevent Blindness, Inc, New York, New York, and by core grant P30-EY06360 (Department of Ophthalmology) from the National Institute of Health, Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Ophthalmology, Neurology, and Neurological Surgery, Emory University School of Medicine, Atlanta, Georgia","institution_ids":["https://openalex.org/I150468666"]},{"raw_affiliation_string":"Nancy J. Newman, MD, Neuro-Ophthalmology Unit, Emory Eye Center, 1365-B Clifton Road, NE, Atlanta, GA 30322; E-mail: [email\u00a0protected]","institution_ids":["https://openalex.org/I4210094864"]},{"raw_affiliation_string":"The author reports no conflicts of interest","institution_ids":[]},{"raw_affiliation_string":"Dr. Newman is a recipient of a Research to Prevent Blindness Lew R. Wasserman Merit Award","institution_ids":["https://openalex.org/I2802577590"]},{"raw_affiliation_string":"E-mail: [email\u00a0protected]","institution_ids":[]},{"raw_affiliation_string":"Supported in part by a departmental grant (Department of Ophthalmology) from the Research to Prevent Blindness, Inc, New York, New York, and by core grant P30-EY06360 (Department of Ophthalmology) from the National Institute of Health, Bethesda, Maryland","institution_ids":["https://openalex.org/I2802577590"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5061016538"],"corresponding_institution_ids":["https://openalex.org/I150468666","https://openalex.org/I2802577590","https://openalex.org/I4210094864"],"apc_list":null,"apc_paid":null,"fwci":0.1294,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.48763549,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"31","issue":"1","first_page":"3","last_page":"5"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.7240999937057495,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.7240999937057495,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.06700000166893005,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.05689999833703041,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/leber-hereditary-optic-neuropathy","display_name":"Leber's hereditary optic neuropathy","score":0.9599999785423279},{"id":"https://openalex.org/keywords/mtdna-mutations","display_name":"mitochondrial DNA mutations","score":0.7400000095367432},{"id":"https://openalex.org/keywords/11778-mutation","display_name":"11778 mutation","score":0.8679999709129333},{"id":"https://openalex.org/keywords/t2-signal","display_name":"T2 signal","score":0.6129999756813049},{"id":"https://openalex.org/keywords/axon-degeneration","display_name":"axonal degeneration","score":0.8970000147819519},{"id":"https://openalex.org/keywords/retinal-ganglion-cell-axons","display_name":"retinal ganglion cell axons","score":0.6690000295639038},{"id":"https://openalex.org/keywords/vision-loss","display_name":"vision loss","score":0.38499999046325684},{"id":"https://openalex.org/keywords/gliosis","display_name":"gliosis","score":0.49900001287460327},{"id":"https://openalex.org/keywords/optic-chiasm","display_name":"optic chiasm","score":0.37400001287460327}],"concepts":[{"id":"https://openalex.org/C2777056713","wikidata":"https://www.wikidata.org/wiki/Q1262161","display_name":"Leber's hereditary optic neuropathy","level":4,"score":0.6957292556762695},{"id":"https://openalex.org/C2778233873","wikidata":"https://www.wikidata.org/wiki/Q2879095","display_name":"Optic neuropathy","level":3,"score":0.6597937941551208},{"id":"https://openalex.org/C2779797997","wikidata":"https://www.wikidata.org/wiki/Q1071710","display_name":"Optic chiasm","level":3,"score":0.5650092959403992},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5639619827270508},{"id":"https://openalex.org/C36388723","wikidata":"https://www.wikidata.org/wiki/Q1079316","display_name":"Optic tract","level":3,"score":0.46030405163764954},{"id":"https://openalex.org/C2776572573","wikidata":"https://www.wikidata.org/wiki/Q972514","display_name":"Optic neuritis","level":3,"score":0.41711729764938354},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.4026366174221039},{"id":"https://openalex.org/C2780837183","wikidata":"https://www.wikidata.org/wiki/Q186029","display_name":"Optic nerve","level":2,"score":0.3282276391983032},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1565396785736084},{"id":"https://openalex.org/C2780640218","wikidata":"https://www.wikidata.org/wiki/Q8277","display_name":"Multiple sclerosis","level":2,"score":0.1292317509651184}],"mesh":[{"descriptor_ui":"D001339","descriptor_name":"Autonomic Fibers, Preganglionic","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001339","descriptor_name":"Autonomic Fibers, Preganglionic","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001339","descriptor_name":"Autonomic Fibers, Preganglionic","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009900","descriptor_name":"Optic Nerve","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009900","descriptor_name":"Optic Nerve","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009900","descriptor_name":"Optic Nerve","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010523","descriptor_name":"Peripheral Nervous System Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D014795","descriptor_name":"Visual Pathways","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D014795","descriptor_name":"Visual Pathways","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D014795","descriptor_name":"Visual Pathways","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020516","descriptor_name":"Brachial Plexus Neuropathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020516","descriptor_name":"Brachial Plexus Neuropathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020516","descriptor_name":"Brachial Plexus Neuropathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020516","descriptor_name":"Brachial Plexus Neuropathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020516","descriptor_name":"Brachial Plexus Neuropathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020516","descriptor_name":"Brachial Plexus Neuropathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1097/wno.0b013e31820c511d","doi":"https://doi.org/10.1097/wno.0b013e31820c511d","is_oa":false,"landing_page_url":"https://doi.org/10.1097/wno.0b013e31820c511d","pdf_url":null,"source":{"id":"https://openalex.org/S195816289","display_name":"Journal of Neuro-Ophthalmology","issn_l":"1070-8022","issn":["1070-8022","1536-5166"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neuro-Ophthalmology","raw_type":"journal-article"},{"id":"pmid:21317730","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21317730","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society","raw_type":"Editorial"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.699999988079071}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1221422246","display_name":null,"funder_award_id":"P-30-EY06360","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G9000860143","display_name":"P30-Core Grant for Vision Research","funder_award_id":"P30EY006360","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W17731452","https://openalex.org/W576255048","https://openalex.org/W1555547205","https://openalex.org/W1847006476","https://openalex.org/W1973140180","https://openalex.org/W2004973897","https://openalex.org/W2028040726","https://openalex.org/W2043569677","https://openalex.org/W2048819314","https://openalex.org/W2056070815","https://openalex.org/W2058203539","https://openalex.org/W2070864958","https://openalex.org/W2077938136","https://openalex.org/W2116023338","https://openalex.org/W2120530836","https://openalex.org/W2138704587","https://openalex.org/W2138898563","https://openalex.org/W2144978632","https://openalex.org/W2158206383","https://openalex.org/W2158352398","https://openalex.org/W2159875281","https://openalex.org/W3025407571","https://openalex.org/W6600716103","https://openalex.org/W6616586359"],"related_works":["https://openalex.org/W4391011785","https://openalex.org/W2138898563","https://openalex.org/W1983566669","https://openalex.org/W2065441363","https://openalex.org/W7099298655","https://openalex.org/W2028040726","https://openalex.org/W2781626325","https://openalex.org/W1963803151","https://openalex.org/W2005271645","https://openalex.org/W2301493519"],"abstract_inverted_index":{"Clinical":[0,810],"medical":[1],"science":[2],"classically":[3],"progresses":[4],"from":[5,435,500,582],"the":[6,24,37,70,75,79,83,88,91,99,102,109,128,138,159,169,182,190,195,222,234,256,263,268,274,278,310,318,339,358,365,390,423,460,501,503,511,515,541,572,644,687,732,745,751,759,766,770,774,786,805,815,847,862,872],"single":[7,382,796,839],"case":[8,12,25,67,797],"report,":[9],"to":[10,14,17,194,247,432,525,538,670,698,754],"multiple":[11],"series,":[13],"molecular":[15],"diagnosis,":[16],"an":[18,344,463,843],"expanded":[19,82],"phenotype.":[20],"Such":[21],"has":[22,237,303,534,559,625,812],"been":[23,238,305,535,560,626,668,814],"with":[26,59,118,329,368,384,389,451,590,871],"Leber":[27],"hereditary":[28,76,688],"optic":[29,51,183,191,235,264,340,542,619,658,662,703,740,767],"neuropathy":[30,609,635,647,656,659,681,704],"(LHON),":[31],"a":[32,46,60,381,452,519,527,629,637,717,825],"disorder":[33,80],"first":[34],"described":[35],"in":[36,53,69,154,181,189,208,221,255,262,317,361,380,478,509,540,557,621,648,705,724,728,731,747,758,778,824,846],"mid-19th":[38],"century":[39,104],"by":[40,141,410],"astute":[41,832],"German":[42],"clinical":[43,84,112,476,553,640,677,707],"ophthalmologists":[44],"as":[45,471,507,563,587,628,636,643,794,830],"syndrome":[47],"of":[48,78,90,101,108,114,127,158,168,227,233,243,270,277,313,321,335,338,364,399,418,422,443,505,530,544,686,694,744,762,790,804,808,817,838,849,851,864,875],"bilateral":[49],"subacute":[50],"neuropathies":[52,620],"otherwise":[54],"healthy":[55],"young":[56],"men,":[57],"often":[58,254],"characteristic":[61],"funduscopic":[62],"appearance":[63],"(1,2).":[64],"Subsequent":[65],"large":[66,424],"series":[68],"premolecular":[71],"era":[72],"better":[73,860],"defined":[74,827],"nature":[77],"and":[81,111,120,175,185,224,298,333,395,408,412,493,514,593,601,615,678,727,785,835,866],"phenotype":[85,576,708],"(3-5).":[86],"With":[87],"discovery":[89],"causal":[92,630],"LHON":[93,164,228,244,271,385,545,558,748,865],"mitochondrial":[94,392,583,588,597,623,699,718,783],"DNA":[95,393,584,719],"point":[96],"mutations":[97],"at":[98,406],"end":[100],"20th":[103],"came":[105],"further":[106,801],"expansion":[107],"demographic":[110],"profile":[113],"this":[115,125,302,362,479,795,852],"disease,":[116],"sometimes":[117],"unusual":[119],"unexpected":[121],"observations":[122,133,856],"(6-9).":[123],"In":[124,137,357],"issue":[126,363],"Journal,":[129],"2":[130,155],"such":[131,586,642,793,829],"interesting":[132],"are":[134,218],"reported":[135],"(10,11).":[136],"Photo":[139],"Essay":[140],"van":[142],"Westen":[143],"et":[144,371],"al":[145,372],"(10),":[146],"MRI":[147],"performed":[148],"several":[149],"months":[150,201,246],"after":[151,249],"visual":[152,171,213,250,322,386],"loss":[153,251,323,387],"male":[156],"members":[157],"same":[160],"molecularly":[161],"confirmed":[162],"11778":[163],"pedigree":[165],"showed":[166,203,415,446],"enlargement":[167],"anterior":[170,212],"pathways":[172],"without":[173,438],"enhancement,":[174],"increased":[176,230],"T2":[177,206,231,292],"signal,":[178],"not":[179,287,304,482,712],"only":[180,489],"nerves":[184,236,497,543],"chiasm":[186,257],"but":[187,259],"also":[188,666,701],"tracts,":[192],"extending":[193],"lateral":[196],"geniculate":[197],"bodies.":[198],"Follow-up":[199],"MRIs":[200,217,242],"later":[202],"persistent":[204],"bright":[205,291],"signal":[207,232,293],"normal-sized":[209],"or":[210],"atrophied":[211],"pathways.":[214],"Although":[215,455,548],"most":[216],"reportedly":[219],"normal":[220],"acute":[223,319],"chronic":[225,602],"phases":[226],"(6,7),":[229],"previously":[239,306,536,550],"noted":[240,307],"on":[241,782],"patients":[245,546,651,664,763],"years":[248],"(12,13),":[252],"less":[253],"(14,15),":[258],"never":[260,549],"before":[261,324],"tracts.":[265,341],"Given":[266],"that":[267,348,459,716,721,750,823],"pathology":[269],"ultimately":[272,299],"involves":[273],"entire":[275],"length":[276],"retinal":[279],"ganglion":[280],"cell":[281,726],"axon":[282],"(16),":[283],"these":[284],"findings":[285],"should":[286,711,734,799,857],"be":[288,713,755],"surprising.":[289],"The":[290],"likely":[294],"reflects":[295],"axonal":[296,420],"degeneration":[297,325,421],"gliosis.":[300],"Why":[301],"may":[308,776],"reflect":[309],"usual":[311],"timing":[312],"diagnostic":[314],"imaging":[315,331],"early":[316],"phase":[320],"can":[326],"occur,":[327],"combined":[328],"low":[330],"quality":[332],"lack":[334],"specific":[336],"views":[337],"Of":[342],"course,":[343],"alternative":[345,465],"explanation":[346],"is":[347,457,722,749,764,821],"we":[349,355],"just":[350,739],"haven't":[351],"looked":[352],"carefully-perhaps":[353],"now":[354],"will!":[356],"second":[359],"article":[360],"Journal":[366],"dealing":[367],"LHON,":[369,831],"Mnatsakanyan":[370],"(11)":[373],"report":[374,798],"brachial":[375,468,491,512],"plexus":[376,403,492,513],"peripheral":[377,400,496,554,608,634,655,680,689],"nerve":[378,555],"abnormalities":[379],"patient":[383,461,480],"associated":[388],"3460":[391],"mutation,":[394],"no":[396,494],"antemortem":[397],"symptoms":[398],"neuropathy.":[401,741],"Brachial":[402],"specimens":[404,434],"obtained":[405],"necropsy":[407],"evaluated":[409],"light":[411],"electron":[413],"microscopy":[414],"various":[416,684],"stages":[417],"extensive":[419],"heavily":[425],"myelinated":[426],"fibers,":[427],"clearly":[428],"abnormal":[429],"when":[430],"compared":[431],"similar":[433,868],"age-matched":[436],"controls":[437],"known":[439],"neurologic":[440,485,567,673],"disease.":[441,486,853],"Histopathology":[442],"muscle":[444],"samples":[445],"variable":[447,779],"fiber":[448],"size":[449],"consistent":[450,639],"neurogenic":[453],"myopathy.":[454],"it":[456],"possible":[458],"had":[462,633,652],"unrecognized":[464],"cause":[466],"for":[467],"plexopathy":[469],"(such":[470],"cervical":[472],"disc":[473],"disease),":[474],"good":[475],"documentation":[477],"did":[481],"suggest":[483,772],"prior":[484],"Additionally,":[487,683],"although":[488],"one":[490,743],"other":[495,565,618,672,867],"were":[498],"sampled":[499],"patient,":[502],"extent":[504],"neurodegeneration":[506],"demonstrated":[508,551],"both":[510,613,676],"muscles":[516],"innervated":[517],"suggested":[518,537],"widespread":[520],"phenomenon.":[521],"Morphometric":[522],"analysis":[523],"failed":[524],"demonstrate":[526],"preferential":[528],"vulnerability":[529],"smaller":[531],"axons,":[532],"which":[533,622,649],"occur":[539],"(17).":[547],"histopathologically,":[552],"involvement":[556],"rarely":[561],"reported,":[562],"have":[564,607,632,665,735],"nonophthalmologic":[566],"manifestations,":[568],"usually":[569],"designated":[570],"within":[571],"so-called":[573],"Leber's":[574],"plus":[575],"(18-20).":[577],"Other":[578],"syndromic":[579],"disorders":[580],"resulting":[581],"mutations,":[585],"encephalopathy":[589,599],"lactic":[591],"acidosis":[592],"stroke-like":[594],"episodes":[595],"(MELAS),":[596],"neurogastrointestinal":[598],"(MNGIE),":[600],"progressive":[603],"external":[604],"ophthalmoplegia":[605],"(CPEO),":[606],"more":[610,638,650,736],"commonly":[611],"demonstrated,":[612],"clinically":[614,653,756],"histopathologically.":[616],"Similarly,":[617],"dysfunction":[624],"proposed":[627],"mechanism":[631],"feature,":[641],"Cuban":[645],"epidemic":[646],"manifest":[654,671],"than":[657,738],"(21).":[660],"Dominant":[661],"atrophy":[663],"recently":[667],"shown":[669],"features,":[674],"including":[675,691],"subclinical":[679],"(22).":[682],"forms":[685,693],"neuropathies,":[690],"some":[692],"Charcot-Marie-Tooth":[695],"disease":[696],"linked":[697],"dysfunction,":[700],"include":[702],"their":[706],"(23).":[709],"It":[710,820],"so":[714],"surprising":[715],"mutation":[720],"present":[723],"every":[725,729],"tissue":[730,753,780],"body":[733],"consequences":[737],"Indeed,":[742],"paradoxes":[746],"sole":[752],"affected":[757],"vast":[760],"majority":[761],"specifically":[765],"nerve.":[768],"As":[769],"authors":[771],"(11),":[773],"answer":[775],"lie":[777],"reliance":[781],"function":[784],"different":[787],"regenerative":[788],"capability":[789],"tissues.":[791],"Studies":[792],"help":[800,858],"our":[802],"understanding":[803],"tissue-specific":[806],"pathophysiology":[807,863],"LHON.":[809],"observation":[811,837],"always":[813],"cornerstone":[816],"neuro-ophthalmological":[818],"practice.":[819],"fitting":[822],"genetically":[826],"disorder,":[828],"clinical,":[833],"radiographic,":[834],"histopathologic":[836],"cases,":[840],"still":[841],"plays":[842],"important":[844],"role":[845],"advancement":[848],"knowledge":[850],"These":[854],"new":[855],"us":[859],"understand":[861],"disorders,":[869],"hopefully":[870],"ultimate":[873],"goal":[874],"generating":[876],"targeted":[877],"therapeutic":[878],"options.":[879]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-06-24T00:00:00"}
