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Abbreviation : MD
Long Form : mitochondrial disease
No. Year Title Co-occurring Abbreviation
2020 Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation. BC, HGS, QOL
2019 Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases. ASMI, BMI, CPEO, FFMI, FMI, MELAS, NMDAS, SMI
2019 Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease. ---
2019 Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome. LS
2019 Effects of mitochondrial disease/dysfunction on pregnancy: A retrospective study. ---
2019 GDF-15, a mitochondrial disease biomarker, is associated with the severity of multiple sclerosis. ALS, EDSS, LE, MS/NMOSD
2019 Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease. ES, mtDNA
2019 Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease. COX, mtDNA, nDNA, SDH
2019 Muscle pain in mitochondrial diseases: a picture from the Italian network. CPEO
10  2019 Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease. nDNA, NGS
11  2019 Physical Exercise and Mitochondrial Disease: Insights From a Mouse Model. Hq, PGC-1alpha
12  2019 Serum growth differentiation factor 15, but not lactate, is elevated in patients with Parkinson's disease. GDF15, PD
13  2019 Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction. NGS
14  2019 [Mitochondrial diseases]. CPEO, LHON, MELAS
15  2018 A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008-2015. ALS, MS, PMPM
16  2018 Are patients affected by mitochondrial disorders at nutritional risk? A.S.P.E.N, ESPEN, QOL
17  2018 Association study of apoptosis gene polymorphisms in mitochondrial diabetes: A potential role in the pathogenicity of MD. ---
18  2018 Comorbidity of mitochondrial disease and dementia in patients with idiopathic polyneuropathy. AD, CI, CIAP, HR, OR, VD
19  2018 Lipidomic profiling of plasma samples from patients with mitochondrial disease. AUC, ROC
20  2018 Mitochondrial Disease in Children: The Nephrologist's Perspective. ---
21  2018 Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease. CMP
22  2018 Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease. ---
23  2018 Patients With Mitochondrial Disease Have an Inadequate Nutritional Intake. DNFCS
24  2018 [Diagnostic and Therapeutic Approaches for Mitochondrial Diseases]. CPEO, KSS, LHON, MELAS, MM, mtDNA, nDNA
25  2017 Anesthetic Management of a Child With Unspecified Mitochondrial Disease in an Outpatient Dental Setting. ---
26  2017 Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease. C/MMR, sST2
27  2017 Focal segmental glomerulosclerosis associated with mitochondrial disease. FSGS, MELAS
28  2017 Metabolomics of mitochondrial disease. ---
29  2017 Presentation and Diagnostic Evaluation of Mitochondrial Disease. ---
30  2017 Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects. MRC
31  2017 Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice. FGF-21, mtDNA
32  2016 Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry. IC, REE, RQ
33  2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. PDHC, WES
34  2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 3-MGA, MDC, WES
35  2016 NFU1 gene mutation and mitochondrial disorders. ISC, mtDNA, nDNA
36  2015 A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy. MIDD
37  2015 Clinical manifestation of mitochondrial diseases. ---
38  2015 IgA nephropathy in a girl with mitochondrial disease. IgAN
39  2015 Oxidative stress and mitochondrial damage: importance in non-SOD1 ALS. ALS, OS, SOD1
40  2014 Mitochondrial Disorders in Adults. ---
41  2014 Mitochondrial Disorders in Adults. ---
42  2014 Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy. BMI, DMD, E/A, LV
43  2014 Refractory high output heart failure in a patient with primary mitochondrial respiratory chain disease. ---
44  2014 Role of plasma amino acids and urinary organic acids in diagnosis of mitochondrial diseases in children. ---
45  2014 Sleep disordered breathing in children with mitochondrial disease. SDB
46  2013 Cardiac dysfunction in mitochondrial disease. Clinical and molecular features. mtDNA
47  2013 Decreased exhaled nitric oxide levels in patients with mitochondrial disorders. BMI, FeNO, NO
48  2013 Redox metabolism abnormalities in autistic children associated with mitochondrial disease. 3-NT, 3CT, ASD, VABS
49  2013 Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. ASD, PPA, TCAC
50  2012 Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system. AUC, CNS, CSF
51  2012 Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defect. ECG
52  2012 Impaired gastric emptying and small bowel transit in children with mitochondrial disorders. GE, GI, ITT
53  2012 Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. ASD/MD, ASDs
54  2012 Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. ---
55  2012 Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study. EMG, NCS
56  2012 Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: comparison with studies in muscle biopsy. RC
57  2011 Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. ---
58  2010 Current options in the treatment of mitochondrial diseases. mtDNA, nDNA
59  2010 Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect. OE
60  2010 [Strategy in diagnosis of mitochondrial diseases]. ---
61  2010 [Stroke-like conditions and ischemic strokes in patients with mitochondrial diseases]. MELAS, SLE
62  2009 Advances in molecular diagnostics for mitochondrial diseases. ---
63  2009 Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker. ETC, ROS
64  2009 [Cerebral CT and MRI in mitchondrial disorders]. CNS
65  2008 Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family. BD
66  2007 Evidence of cardiovascular autonomic impairment in mitochondrial disorders. ANS, PSA
67  2007 Functional diagnostics in mitochondrial diseases. MRS
68  2007 Mitochondrial syndromic sensorineural hearing loss. SNHL
69  2007 Neuropathology of mitochondrial diseases. CNS, COX
70  2007 Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes. OGLST, PDH, RC, UOA/PAA
71  2004 Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy. nDNA
72  2004 Single fiber electromyography (SFEMG) in mitochondrial diseases (MD). SFEMG
73  2002 Peripheral benzodiazepine binding sites in platelets of patients affected by mitochondrial diseases and large scale mitochondrial DNA rearrangements. MPT, PBR
74  2000 Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies. ---
75  1996 [Mitochondrial diseases. Part I -- general review]. ---
76  1996 [Mitochondrial diseases. Part II -- diagnosis and detailed review]. ---
77  1994 [Clinical and investigative approaches in mitochondrial diseases. A review of 15 cases]. ---