-
1
-
-
1242342707
-
People with intellectual disability and their health problems: A review of comparative studies
-
Jansen, D.E.; Krol, B.; Groothoff, J.W.; Post, D. People with intellectual disability and their health problems: A review of comparative studies. J. Intellect. Disabil. Res. 2004, 48, 93–102.
-
(2004)
J. Intellect. Disabil. Res
, vol.48
, pp. 93-102
-
-
Jansen, D.E.1
Krol, B.2
Groothoff, J.W.3
Post, D.4
-
2
-
-
36849091403
-
Mitochondrial disease: A practical approach for primary care physicians
-
Haas, R.H.; Parikh, S.; Falk, M.J.; Saneto, R.P.; Wolf, N.I.; Darin, N.; Cohen, B.H. Mitochondrial disease: A practical approach for primary care physicians. Pediatrics 2007, 120, 1326–1333.
-
(2007)
Pediatrics
, vol.120
, pp. 1326-1333
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
Saneto, R.P.4
Wolf, N.I.5
Darin, N.6
Cohen, B.H.7
-
3
-
-
84879767669
-
Global developmental delay and mental retardation/intellectual disability
-
5th ed.; Swaiman, K.F., Ashwal, S., Ferriero, D.M., Schor, N.F., Eds.; Elsevier Saunders: Philadelphia, PA, USA
-
Sherr, E.H.; Shevell, M.I. Global developmental delay and mental retardation/intellectual disability. In Pediatric Neurology: Principles and Practice, 5th ed.; Swaiman, K.F., Ashwal, S., Ferriero, D.M., Schor, N.F., Eds.; Elsevier Saunders: Philadelphia, PA, USA, 2012; pp. 554–574.
-
(2012)
Pediatric Neurology: Principles and Practice
, pp. 554-574
-
-
Sherr, E.H.1
Shevell, M.I.2
-
4
-
-
84939532709
-
-
Definition of Intellectual Disability. Available online, accessed on 11 July
-
American Association of Intellectual and Developmental Disabilities (AAIDD). Definition of Intellectual Disability. Available online: http://aaidd.org/intellectual-disability/definition (accessed on 11 July 2013).
-
(2013)
-
-
-
5
-
-
0035259772
-
Naming, defining, and classifying mental retardation
-
Luckasson, R.; Reeve, A. Naming, defining, and classifying mental retardation. Ment. Retard. 2001, 39, 47–52.
-
(2001)
Ment. Retard
, vol.39
, pp. 47-52
-
-
Luckasson, R.1
Reeve, A.2
-
6
-
-
72449157060
-
Emotional and behavioural problems in adolescents with intellectual disability with and without chronic diseases
-
Oeseburg, B.; Jansen, D.E.; Groothoff, J.W.; Dijkstra, G.J.; Reijneveld, S.A. Emotional and behavioural problems in adolescents with intellectual disability with and without chronic diseases. J. Intellect. Disabil. Res. 2010, 54, 81–89.
-
(2010)
J. Intellect. Disabil. Res
, vol.54
, pp. 81-89
-
-
Oeseburg, B.1
Jansen, D.E.2
Groothoff, J.W.3
Dijkstra, G.J.4
Reijneveld, S.A.5
-
7
-
-
84858292659
-
Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review
-
Van Karnebeek, C.D.; Stockler, S. Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review. Mol. Genet. Metab. 2012, 105, 368–381.
-
(2012)
Mol. Genet. Metab
, vol.105
, pp. 368-381
-
-
Van Karnebeek, C.D.1
Stockler, S.2
-
8
-
-
80755168331
-
Genetic and epigenetic networks in intellectual disabilities
-
Bokhoven, H. Genetic and epigenetic networks in intellectual disabilities. Annu. Rev. Genet. 2011, 45, 81–104.
-
(2011)
Annu. Rev. Genet
, vol.45
, pp. 81-104
-
-
Bokhoven, H.1
-
9
-
-
84884895912
-
Neurodevelopmental disorders and genetic testing: Current approaches and future advances
-
Sherr, E.H.; Michelson, D.J.; Shevell, M.I.; Moeschler, J.B.; Gropman, A.L.; Ashwal, S. Neurodevelopmental disorders and genetic testing: Current approaches and future advances. Ann. Neurol. 2013, 74, 164–170.
-
(2013)
Ann. Neurol
, vol.74
, pp. 164-170
-
-
Sherr, E.H.1
Michelson, D.J.2
Shevell, M.I.3
Moeschler, J.B.4
Gropman, A.L.5
Ashwal, S.6
-
10
-
-
84859755049
-
Genetic investigation for adults with intellectual disability: Opportunities and challenges
-
Baker, K.; Raymond, F.L.; Bass, N. Genetic investigation for adults with intellectual disability: Opportunities and challenges. Curr. Opin. Neurol. 2012, 25, 150–158.
-
(2012)
Curr. Opin. Neurol
, vol.25
, pp. 150-158
-
-
Baker, K.1
Raymond, F.L.2
Bass, N.3
-
11
-
-
77952530338
-
-
GeneReviews®; Pagon, R.A., Adam, M.P., Ardinger, H.H., Bird, T.D., Dolan, C.R., Fong, C.T., Smith, R.J.H., Stephens, K., Eds.; University of Washington: Seattle, WA, USA
-
Chinnery, P.F. Mitochondrial disorders overview. In GeneReviews®; Pagon, R.A., Adam, M.P., Ardinger, H.H., Bird, T.D., Dolan, C.R., Fong, C.T., Smith, R.J.H., Stephens, K., Eds.; University of Washington: Seattle, WA, USA, 1993–2014.
-
Mitochondrial Disorders Overview
, pp. 1993-2014
-
-
Chinnery, P.F.1
-
12
-
-
77956233741
-
The use of neuroimaging in the diagnosis of mitochondrial disease
-
Friedman, S.D.; Shaw, D.W.; Ishak, G.; Gropman, A.L.; Saneto, R.P. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev. Disabil. Res. Rev. 2010, 16, 129–135.
-
(2010)
Dev. Disabil. Res. Rev
, vol.16
, pp. 129-135
-
-
Friedman, S.D.1
Shaw, D.W.2
Ishak, G.3
Gropman, A.L.4
Saneto, R.P.5
-
13
-
-
0037069229
-
Diagnostic criteria for respiratory chain disorders in adults and children
-
Bernier, F.P.; Boneh, A.; Dennett, X.; Chow, C.W.; Cleary, M.A.; Thorburn, D.R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002, 59, 1406–1411.
-
(2002)
Neurology
, vol.59
, pp. 1406-1411
-
-
Bernier, F.P.1
Boneh, A.2
Dennett, X.3
Chow, C.W.4
Cleary, M.A.5
Thorburn, D.R.6
-
14
-
-
0037069274
-
Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children
-
Wolf, N.I.; Smeitink, J.A. Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children. Neurology 2002, 59, 1402–1405.
-
(2002)
Neurology
, vol.59
, pp. 1402-1405
-
-
Wolf, N.I.1
Smeitink, J.A.2
-
15
-
-
9644266773
-
Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders
-
Thorburn, D.R.; Sugiana, C.; Salemi R.; Kirby, D.M.; Worgan, L.; Ohtake, A.; Ryan, M.T. Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders. Biochim. Biophys. Acta 2004, 1659, 121–128.
-
(2004)
Biochim. Biophys. Acta
, vol.1659
, pp. 121-128
-
-
Thorburn, D.R.1
Sugiana, C.2
Salemi, R.3
Kirby, D.M.4
Worgan, L.5
Ohtake, A.6
Ryan, M.T.7
-
16
-
-
77953157233
-
The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: A national, prospective, population-based study
-
Verity, C.M.; Winstone, A.M.; Stellitano, L.; Krishnakumar, D.; Will, R.; McFarland, R. The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: A national, prospective, population-based study. Dev. Med. Child Neurol. 2010, 52, 434–440.
-
(2010)
Dev. Med. Child Neurol
, vol.52
, pp. 434-440
-
-
Verity, C.M.1
Winstone, A.M.2
Stellitano, L.3
Krishnakumar, D.4
Will, R.5
McFarland, R.6
-
17
-
-
77955330843
-
A neurological perspective on mitochondrial disease
-
McFarland, R.; Taylor, R.W.; Turnbull, D.M. A neurological perspective on mitochondrial disease. Lancet Neurol. 2010, 9, 829–840.
-
(2010)
Lancet Neurol
, vol.9
, pp. 829-840
-
-
McFarland, R.1
Taylor, R.W.2
Turnbull, D.M.3
-
18
-
-
0033957295
-
Neurologic presentations of mitochondrial disorders
-
Nissenkorn, A.; Zeharia, A.; Lev, D.; Watemberg, N.; Fattal-Valevski, A.; Barash, V.; Gutman, A.; Harel, S.; Lerman-Sagie, T. Neurologic presentations of mitochondrial disorders. J. Child Neurol. 2000, 15, 44–48.
-
(2000)
J. Child Neurol
, vol.15
, pp. 44-48
-
-
Nissenkorn, A.1
Zeharia, A.2
Lev, D.3
Watemberg, N.4
Fattal-Valevski, A.5
Barash, V.6
Gutman, A.7
Harel, S.8
Lerman-Sagie, T.9
-
19
-
-
84927604381
-
Intellectual disability
-
5th ed.; American Psychiatric Publication: Arlington, VA, USA
-
American Psychiatric Association. Intellectual disability. In Diagnostic and Statistical Manual of Mental Disorders, 5th ed.; American Psychiatric Publication: Arlington, VA, USA, 2013; p. 33.
-
(2013)
Diagnostic and Statistical Manual of Mental Disorders
-
-
-
20
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
Di Mauro, S.; Schon, E.A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 2003, 348, 2656–2668.
-
(2003)
N. Engl. J. Med
, vol.348
, pp. 2656-2668
-
-
Di Mauro, S.1
Schon, E.A.2
-
21
-
-
56849108261
-
Mitochondrial disease in autism spectrum disorder patients: A cohort analysis
-
Weissman, J.R.; Kelley, R.I.; Bauman, M.L.; Cohen, B.H.; Murray, K.F.; Mitchell, R.L.; Kern, R.L.; Natowicz, M.R. Mitochondrial disease in autism spectrum disorder patients: A cohort analysis. PLoS One 2008, 3, e3815.
-
(2008)
Plos One
, vol.3
-
-
Weissman, J.R.1
Kelley, R.I.2
Bauman, M.L.3
Cohen, B.H.4
Murray, K.F.5
Mitchell, R.L.6
Kern, R.L.7
Natowicz, M.R.8
-
23
-
-
52949151959
-
Global developmental delay and mental retardation or intellectual disability: Conceptualization, evaluation, and etiology
-
Shevell, M. Global developmental delay and mental retardation or intellectual disability: Conceptualization, evaluation, and etiology. Pediatr. Clin. N. Am. 2008, 55, 1071–1084.
-
(2008)
Pediatr. Clin. N. Am
, vol.55
, pp. 1071-1084
-
-
Shevell, M.1
-
24
-
-
0032471372
-
Neuroradiologic findings in children with mitochondrial disorders
-
Valanne, L.; Ketonen, L.; Majander, A.; Suomalainen, A.; Pihko, H. Neuroradiologic findings in children with mitochondrial disorders. Am. J. Neuroradiol. 1998, 19, 369–377.
-
(1998)
Am. J. Neuroradiol
, vol.19
, pp. 369-377
-
-
Valanne, L.1
Ketonen, L.2
Majander, A.3
Suomalainen, A.4
Pihko, H.5
-
25
-
-
18544378181
-
Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies
-
Barragan-Campos, H.M.; Valee, J.N.; Lo, D.; Barrera-Ramírez, C.F.; Argote-Greene, M.; Sánchez-Guerrero, J.; Estañol, B.; Guillevin, R.; Chiras, J. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch. Neurol. 2005, 62, 737–742.
-
(2005)
Arch. Neurol
, vol.62
, pp. 737-742
-
-
Barragan-Campos, H.M.1
Valee, J.N.2
Lo, D.3
Barrera-Ramírez, C.F.4
Argote-Greene, M.5
Sánchez-Guerrero, J.6
Estañol, B.7
Guillevin, R.8
Chiras, J.9
-
26
-
-
84876196884
-
Neuroimaging in mitochondrial disorders
-
Gropman, A.L. Neuroimaging in mitochondrial disorders. Neurotherapeutics 2013, 10, 273–285.
-
(2013)
Neurotherapeutics
, vol.10
, pp. 273-285
-
-
Gropman, A.L.1
-
27
-
-
54949094371
-
Neuroimaging of mitochondrial disease
-
Saneto, R.P.; Friedman, S.D.; Shaw, D.W. Neuroimaging of mitochondrial disease. Mitochondrion 2008, 8, 396–413.
-
(2008)
Mitochondrion
, vol.8
, pp. 396-413
-
-
Saneto, R.P.1
Friedman, S.D.2
Shaw, D.W.3
-
28
-
-
0036257263
-
Significance of microcephaly among children with developmental disabilities
-
Watemberg, N.; Silver, S.; Harel, S.; Lerman-Sagie, T. Significance of microcephaly among children with developmental disabilities. J. Child Neurol. 2002, 17, 117–122.
-
(2002)
J. Child Neurol
, vol.17
, pp. 117-122
-
-
Watemberg, N.1
Silver, S.2
Harel, S.3
Lerman-Sagie, T.4
-
29
-
-
84865703692
-
Mitochondrial diseases and epilepsy
-
Bindoff, L.A.; Engelsen, B.A. Mitochondrial diseases and epilepsy. Epilepsia 2012, 53, 92–97.
-
(2012)
Epilepsia
, vol.53
, pp. 92-97
-
-
Bindoff, L.A.1
Engelsen, B.A.2
-
30
-
-
41849123439
-
Presentation and diagnosis of mitochondrial disorders in children
-
Koenig, M.K. Presentation and diagnosis of mitochondrial disorders in children. Pediatr. Neurol. 2008, 38, 305–313.
-
(2008)
Pediatr. Neurol
, vol.38
, pp. 305-313
-
-
Koenig, M.K.1
-
31
-
-
84876293747
-
Down-regulation of the expression of mitochondrial electron transport complex genes in autism brains
-
Anitha, A.; Nakamura, K.; Thanseem, I.; Matsuzaki, H.; Miyachi, T.; Tsujii, M.; Iwata, Y.; Suzuki, K.; Sugiyama, T.; Mori, N. Down-regulation of the expression of mitochondrial electron transport complex genes in autism brains. Brain Pathol. 2013, 23, 294–302.
-
(2013)
Brain Pathol
, vol.23
, pp. 294-302
-
-
Anitha, A.1
Nakamura, K.2
Thanseem, I.3
Matsuzaki, H.4
Miyachi, T.5
Tsujii, M.6
Iwata, Y.7
Suzuki, K.8
Sugiyama, T.9
Mori, N.10
-
33
-
-
0032771227
-
Multiple presentation of mitochondrial disorders
-
Nissenkorn, A.; Zeharia, A.; Lev, D.; Fatal-Valevskic, A.; Barashd, V.; Gutmand, A.; Harelc, S.; Lerman-Sagiea, T. Multiple presentation of mitochondrial disorders. Arch. Dis. Child. 1999, 81, 209–214.
-
(1999)
Arch. Dis. Child
, vol.81
, pp. 209-214
-
-
Nissenkorn, A.1
Zeharia, A.2
Lev, D.3
Fatal-Valevskic, A.4
Barashd, V.5
Gutmand, A.6
Harelc, S.7
Lerman-Sagiea, T.8
-
34
-
-
84865193829
-
Treatment for mitochondrial disorders
-
Pfeffer, G.; Majamaa, K.; Turnbull, D.M.; Thorburn, D.; Chinnery, P.F. Treatment for mitochondrial disorders. Cochrane Database Syst. Rev. 2012, 4, CD004426.
-
(2012)
Cochrane Database Syst. Rev
, vol.4
-
-
Pfeffer, G.1
Majamaa, K.2
Turnbull, D.M.3
Thorburn, D.4
Chinnery, P.F.5
-
35
-
-
34250676955
-
Mitochondrial diseases: Therapeutic approaches
-
Di Mauro, S.; Mancuso, M. Mitochondrial diseases: Therapeutic approaches. Biosci. Rep. 2007, 27, 125–137.
-
(2007)
Biosci. Rep
, vol.27
, pp. 125-137
-
-
Di Mauro, S.1
Mancuso, M.2
-
36
-
-
0034956801
-
Epidemiology and treatment of mitochondrial disorders
-
Chinnery, P.F.; Turnbull, D.M. Epidemiology and treatment of mitochondrial disorders. Am. J. Med. Genet. 2001, 106, 94–101.
-
(2001)
Am. J. Med. Genet
, vol.106
, pp. 94-101
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
37
-
-
84897355860
-
Treatment of mitochondrial disorders
-
Avula, S.; Parikh, S.; Demarest, S.; Kurz, J.; Gropman, A. Treatment of mitochondrial disorders. Curr. Treat. Options Neurol. 2014, 16, 292.
-
(2014)
Curr. Treat. Options Neurol
, vol.16
, pp. 292
-
-
Avula, S.1
Parikh, S.2
Demarest, S.3
Kurz, J.4
Gropman, A.5
-
38
-
-
84928796399
-
Treatments for biomedical abnormalities associated with autism spectrum disorder
-
Frye, R.E.; Rossignol, D.A. Treatments for biomedical abnormalities associated with autism spectrum disorder. Front. Pediatr. 2014, 2, 66.
-
(2014)
Front. Pediatr
, vol.2
, pp. 66
-
-
Frye, R.E.1
Rossignol, D.A.2
-
39
-
-
84866338957
-
Concurrent validity of the Bayley-III and the peabody developmental motor scale-2
-
Connolly, B.H.; McClune, N.O.; Gatlin, R. Concurrent validity of the Bayley-III and the peabody developmental motor scale-2. Pediatr. Phys. Ther. 2012, 24, 345–352.
-
(2012)
Pediatr. Phys. Ther
, vol.24
, pp. 345-352
-
-
Connolly, B.H.1
McClune, N.O.2
Gatlin, R.3
-
40
-
-
84893108328
-
Autism spectrum disorder severityas a predictor of Battelle Developmental Inventory—Second edition (BDI-2) scores in toddlers
-
Goldin, R.L.; Matson, J.L.; Beighley, J.S.; Jang, J. Autism spectrum disorder severityas a predictor of Battelle Developmental Inventory—Second edition (BDI-2) scores in toddlers. Dev. Neurorehabil. 2014, 17, 39–43.
-
(2014)
Dev. Neurorehabil
, vol.17
, pp. 39-43
-
-
Goldin, R.L.1
Matson, J.L.2
Beighley, J.S.3
Jang, J.4
-
42
-
-
67349215759
-
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)
-
Herrero-Martín, M.D.; Pineda, M.; Briones, P.; López-Gallardo, E.; Carreras, M.; Benac, M.; Angel Idoate, M.; Vilaseca, M.A.; Artuch, R.; López-Pérez, M.J., et al. A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1). Hum. Mutat. 2008, 29, E112–E122.
-
(2008)
Hum. Mutat
, vol.29
, pp. E112-E122
-
-
Herrero-Martín, M.D.1
Pineda, M.2
Briones, P.3
López-Gallardo, E.4
Carreras, M.5
Benac, M.6
Angel Idoate, M.7
Vilaseca, M.A.8
Artuch, R.9
López-Pérez, M.J.10
-
43
-
-
29544446876
-
Skeletal muscle mitochondrial DNA content in exercising humans
-
Marcuello, A.; González-Alonso, J.; Calbet, J.A.; Damsgaard, R.; López-Pérez, M.J.; Díez-Sánchez, C. Skeletal muscle mitochondrial DNA content in exercising humans. J. Appl. Physiol. 1985, 99, 1372–1377.
-
(1985)
J. Appl. Physiol
, vol.99
, pp. 1372-1377
-
-
Marcuello, A.1
González-Alonso, J.2
Calbet, J.A.3
Damsgaard, R.4
López-Pérez, M.J.5
Díez-Sánchez, C.6
-
44
-
-
0029096734
-
Major changes in complex I activity in mitochondria from aged rats may not be detected by direct assay of NADH:Coenzyme Q reductase
-
Genova, M.L.; Castelluccio, C.; Fato, R. Major changes in complex I activity in mitochondria from aged rats may not be detected by direct assay of NADH:coenzyme Q reductase. Biochem. J. 1995, 311, 105–109.
-
(1995)
Biochem. J
, vol.311
, pp. 105-109
-
-
Genova, M.L.1
Castelluccio, C.2
Fato, R.3
-
45
-
-
0035083570
-
Different sensitivity of rabbit heart and skeletal muscle to endotoxin-induced impairment of mitochondrial function
-
Trumbeckaite, S.; Opalka, J.R.; Neuhof, C.; Zierz, S.; Gellerich, F.N. Different sensitivity of rabbit heart and skeletal muscle to endotoxin-induced impairment of mitochondrial function. Eur. J. Biochem. 2001, 268, 1422–1429.
-
(2001)
Eur. J. Biochem
, vol.268
, pp. 1422-1429
-
-
Trumbeckaite, S.1
Opalka, J.R.2
Neuhof, C.3
Zierz, S.4
Gellerich, F.N.5
-
46
-
-
33746094282
-
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders
-
Montero, R.; Artuch, R.; Briones, P.; Nascimento, A.; García-Cazorla, A.; Vilaseca, M.A.; Śnchez-Alćzar, J.A.; Navas, P.; Montoya, J.; Pineda, M. Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders. Biofactors. 2005, 25, 109–115.
-
(2005)
Biofactors
, vol.25
, pp. 109-115
-
-
Montero, R.1
Artuch, R.2
Briones, P.3
Nascimento, A.4
García-Cazorla, A.5
Vilaseca, M.A.6
Śnchez-Alćzar, J.A.7
Navas, P.8
Montoya, J.9
Pineda, M.10
|