1 40 3 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. URL Address <a href="http://doi.org/10.1212/NXG.0000000000000402" target="_blank" rel="noreferrer noopener">http://doi.org/10.1212/NXG.0000000000000402</a> Pages e402 Issue 2 Volume 6 ISSN 2376-7839 2376-7839 Search for Full-text Locate full-text within NEOMED Library's e-journal collections <a href="http://neomed.idm.oclc.org/login?url=http://doi.org/10.1212/NXG.0000000000000402" target="_blank" rel="noreferrer noopener">NEOMED Full-text Holding (if available) - Proxy DOI: 10.1212/NXG.0000000000000402</a> <p>Users with a NEOMED Library login can search for full-text journal articles at the following url: <a href="https://libraryguides.neomed.edu/home">https://libraryguides.neomed.edu/home</a></p> Update Year & Number June 2020 Update I NEOMED College NEOMED College of Medicine NEOMED Department Department of Pediatrics; Department of Integrative Medical Sciences Affiliated Hospital Akron Children's Hospital Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Publisher An entity responsible for making the resource available Neurology. Genetics Date A point or period of time associated with an event in the lifecycle of the resource 2020 2020-04 Subject The topic of the resource criteria; dna; melas; merrf; natural-history; nuclear; prevalence Creator An entity primarily responsible for making the resource Barca Emanuele; Long Yuelin; Cooley Victoria; Schoenaker Robert; Emmanuele Valentina; DiMauro Salvatore; Cohen Bruce H; Karaa Amel; Vladutiu Georgirene D; Haas Richard; Van Hove Johan L K; Scaglia Fernando; Parikh Sumit; Bedoyan Jirair K; DeBrosse Susanne D; Gavrilova Ralitza H; Saneto Russell P; Enns Gregory M; Stacpoole Peter W; Ganesh Jaya; Larson Austin; Zolkipli-Cunningham Zarazuela; Falk Marni J; Goldstein Amy C; Tarnopolsky Mark; Gropman Andrea; Camp Kathryn; Krotoski Danuta; Engelstad Kristin; Rosales Xiomara Q; Kriger Joshua; Grier Johnston; Buchsbaum Richard; Thompson John L P; Hirano Michio Description An account of the resource Objective: To describe clinical, biochemical, and genetic features of participants with mitochondrial diseases (MtDs) enrolled in the North American Mitochondrial Disease Consortium (NAMDC) Registry. Methods: This cross-sectional, multicenter, retrospective database analysis evaluates the phenotypic and molecular characteristics of participants enrolled in the NAMDC Registry from September 2011 to December 2018. The NAMDC is a network of 17 centers with expertise in MtDs and includes both adult and pediatric specialists. Results: One thousand four hundred ten of 1,553 participants had sufficient clinical data for analysis. For this study, we included only participants with molecular genetic diagnoses (n = 666). Age at onset ranged from infancy to adulthood. The most common diagnosis was multisystemic disorder (113 participants), and only a minority of participants were diagnosed with a classical mitochondrial syndrome. The most frequent classical syndromes were Leigh syndrome (97 individuals) and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (71 individuals). Pathogenic variants in the mitochondrial DNA were more frequently observed (414 participants) than pathogenic nuclear gene variants (252 participants). Pathogenic variants in 65 nuclear genes were identified, with POLG1 and PDHA1 being the most commonly affected. Pathogenic variants in 38 genes were reported only in single participants. Conclusions: The NAMDC Registry data confirm the high variability of clinical, biochemical, and genetic features of participants with MtDs. This study serves as an important resource for future enhancement of MtD research and clinical care by providing the first comprehensive description of participant with MtD in North America. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1212/NXG.0000000000000402" target="_blank" rel="noreferrer noopener">10.1212/NXG.0000000000000402</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s). Format The file format, physical medium, or dimensions of the resource journalArticle 2020 Akron Children's Hospital Barca Emanuele Bedoyan Jirair K Buchsbaum Richard Camp Kathryn Cohen Bruce H Cooley Victoria criteria DeBrosse Susanne D Department of Integrative Medical Sciences Department of Pediatrics DiMauro Salvatore DNA Emmanuele Valentina Engelstad Kristin Enns Gregory M Falk Marni J Ganesh Jaya Gavrilova Ralitza H Goldstein Amy C Grier Johnston Gropman Andrea Haas Richard Hirano Michio Journal Article journalArticle June 2020 Update I Karaa Amel Kriger Joshua Krotoski Danuta Larson Austin Long Yuelin melas merrf natural-history NEOMED College of Medicine Neurology. Genetics nuclear Parikh Sumit Prevalence Rosales Xiomara Q Saneto Russell P Scaglia Fernando Schoenaker Robert Stacpoole Peter W Tarnopolsky Mark Thompson John L P Van Hove Johan L K Vladutiu Georgirene D Zolkipli-Cunningham Zarazuela Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. URL Address <a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">http://doi.org/10.1136/jmedgenet-2018-105800</a> Rights Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s). Pages 123-130 Issue 3 Volume 56 NEOMED College NEOMED College of Medicine NEOMED Department Department of Pediatrics; Department of Integrative Medical Sciences Affiliated Hospital Akron Children's Hospital Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Diagnosis of 'possible' mitochondrial disease: an existential crisis. Publisher An entity responsible for making the resource available Journal of medical genetics Date A point or period of time associated with an event in the lifecycle of the resource 2019 2019-03 Subject The topic of the resource clinical genetics; diagnosis; evidence based practice; metabolic disorders Creator An entity primarily responsible for making the resource Parikh Sumit; Karaa Amel; Goldstein Amy; Bertini Enrico Silvio; Chinnery Patrick F; Christodoulou John; Cohen Bruce H; Davis Ryan L; Falk Marni J; Fratter Carl; Horvath Rita; Koenig Mary Kay; Mancuso Michaelangelo; McCormack Shana; McCormick Elizabeth M; McFarland Robert; Nesbitt Victoria; Schiff Manuel; Steele Hannah; Stockler Silvia; Sue Carolyn; Tarnopolsky Mark; Thorburn David R; Vockley Jerry; Rahman Shamima Description An account of the resource Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of 'diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">10.1136/jmedgenet-2018-105800</a> 2019 Akron Children's Hospital Bertini Enrico Silvio Chinnery Patrick F Christodoulou John clinical genetics Cohen Bruce H Davis Ryan L Department of Integrative Medical Sciences Department of Pediatrics Diagnosis evidence based practice Falk Marni J Fratter Carl Goldstein Amy Horvath Rita Journal of medical genetics Karaa Amel Koenig Mary Kay Mancuso Michaelangelo McCormack Shana McCormick Elizabeth M McFarland Robert metabolic disorders NEOMED College of Medicine Nesbitt Victoria Parikh Sumit Rahman Shamima Schiff Manuel Steele Hannah Stockler Silvia Sue Carolyn Tarnopolsky Mark Thorburn David R Vockley Jerry Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. URL Address <a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">http://doi.org/10.1136/jmedgenet-2018-105800</a> Pages 123–130 Issue 3 Volume 56 NEOMED College NEOMED College of Medicine NEOMED Department Department of Pediatrics; Department of Integrative Medical Sciences Affiliated Hospital Akron Children's Hospital Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Diagnosis of 'possible' mitochondrial disease: an existential crisis. Publisher An entity responsible for making the resource available Journal of medical genetics Date A point or period of time associated with an event in the lifecycle of the resource 2019 2019-03 Subject The topic of the resource clinical genetics; diagnosis; evidence based practice; metabolic disorders Creator An entity primarily responsible for making the resource Parikh Sumit; Karaa Amel; Goldstein Amy; Bertini Enrico Silvio; Chinnery Patrick F; Christodoulou John; Cohen Bruce H; Davis Ryan L; Falk Marni J; Fratter Carl; Horvath Rita; Koenig Mary Kay; Mancuso Michaelangelo; McCormack Shana; McCormick Elizabeth M; McFarland Robert; Nesbitt Victoria; Schiff Manuel; Steele Hannah; Stockler Silvia; Sue Carolyn; Tarnopolsky Mark; Thorburn David R; Vockley Jerry; Rahman Shamima Description An account of the resource Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of 'diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1136/jmedgenet-2018-105800" target="_blank" rel="noreferrer noopener">10.1136/jmedgenet-2018-105800</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s). 2019 Akron Children's Hospital Bertini Enrico Silvio Chinnery Patrick F Christodoulou John clinical genetics Cohen Bruce H Davis Ryan L Department of Integrative Medical Sciences Department of Pediatrics Diagnosis evidence based practice Falk Marni J Fratter Carl Goldstein Amy Horvath Rita Journal of medical genetics Karaa Amel Koenig Mary Kay Mancuso Michaelangelo McCormack Shana McCormick Elizabeth M McFarland Robert metabolic disorders NEOMED College of Medicine Nesbitt Victoria Parikh Sumit Rahman Shamima Schiff Manuel Steele Hannah Stockler Silvia Sue Carolyn Tarnopolsky Mark Thorburn David R Vockley Jerry