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
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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
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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
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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