-
1
-
-
56049106835
-
Duchenne muscular dystrophy
-
Yiu EM, Kornberg AJ. Duchenne muscular dystrophy. Neurol India.2008;56:236-47.
-
(2008)
Neurol India
, vol.56
, pp. 236-247
-
-
Yiu, E.M.1
Kornberg, A.J.2
-
2
-
-
72149108443
-
Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management
-
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77-93.
-
(2010)
Lancet Neurol
, vol.9
, pp. 77-93
-
-
Bushby, K.1
Finkel, R.2
Birnkrant, D.J.3
Case, L.E.4
Clemens, P.R.5
Cripe, L.6
-
3
-
-
16644402070
-
Duchenne muscular dystrophy and dystrophin: Pathogenesis and opportunities for treatment: Third in molecular medicine review series
-
DOI 10.1038/sj.embor.7400221, PII 7400221
-
Nowak KJ, Davies KE. Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep. 2004;5:872-6. (Pubitemid 350011231)
-
(2004)
EMBO Reports
, vol.5
, Issue.9
, pp. 872-876
-
-
Nowak, K.J.1
Davies, K.E.2
-
4
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
DOI 10.1016/0092-8674(87)90504-6
-
Koenig M, Hoffman EP, Bertelson CJ, Monaco EP, Feener C, Kunkel LM. Complete cloning of the Ducehnne muscular dystrophy (DMD) cDNA and preliminary genomic organization of DMD gene in normal and affected individual. Cell. 1987 Jul 31;50(3):509-17. (Pubitemid 18098338)
-
(1987)
Cell
, vol.50
, Issue.3
, pp. 509-517
-
-
Koening, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
5
-
-
0025257614
-
Segregation analysis of 1885 DMD families: Significant departure from the expected proportion of sporadic cases
-
Barbujani G, Russo A, Danieli GA, Spiegler AW, Borkowska J, Petrusewicz IH. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet. 1990;84:522-6. (Pubitemid 20158811)
-
(1990)
Human Genetics
, vol.84
, Issue.6
, pp. 522-526
-
-
Barbujani, G.1
Russo, A.2
Danieli, G.A.3
Spiegler, A.W.J.4
Borkowska, J.5
Hausmanova, P.I.6
-
6
-
-
0035450929
-
Molecular pathophysiology and targeted therapeutics for muscular dystrophy
-
DOI 10.1016/S0165-6147(00)01770-3, PII S0165614700017703
-
Hoffman EP, Dressman D. Molecular pathophysiology and targeted therapeutics for muscular dystrophy. Trends Pharmacol Sci. 2001 Sep;22(9):465-70. (Pubitemid 32816939)
-
(2001)
Trends in Pharmacological Sciences
, vol.22
, Issue.9
, pp. 465-470
-
-
Hoffman, E.P.1
Dressman, D.2
-
7
-
-
0017316634
-
Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases
-
Wrogemann K, Pena SD. Mitochondrial calcium overload: a general mechanism for cell-necrosis in muscle diseases. Lancet. 1976;1:672-4.
-
(1976)
Lancet
, vol.1
, pp. 672-674
-
-
Wrogemann, K.1
Pena, S.D.2
-
8
-
-
0016630420
-
Membrane protein kinase alteration in Duchenne muscular dystrophy
-
Roses AD, Herbstreight MH, Appel SH. Membrane protein kinase alteration in Duchenne muscular dystrophy. Nature. 1975;254:350-1.
-
(1975)
Nature
, vol.254
, pp. 350-351
-
-
Roses, A.D.1
Herbstreight, M.H.2
Appel, S.H.3
-
10
-
-
0025017751
-
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
-
DOI 10.1016/0167-5273(90)90082-G
-
Nigro G, Comi LI, Politano L, Bain RJ. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol. 1990;26:271-7. (Pubitemid 20061348)
-
(1990)
International Journal of Cardiology
, vol.26
, Issue.3
, pp. 271-277
-
-
Nigro, G.1
Comi, L.I.2
Politano, L.3
Bain, R.J.I.4
-
11
-
-
0037114204
-
Changes in spirometry over time as a prognostic marker in patients with duchenne muscular dystrophy
-
Phillips MF, Quinlivan RC, Edwards RH, Calverley PM. Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Am J Respir Crit Care Med. 2001;164:2191-4. (Pubitemid 34032934)
-
(2001)
American Journal of Respiratory and Critical Care Medicine
, vol.164
, Issue.12
, pp. 2191-2194
-
-
Phillips, M.F.1
Quinlivan, R.C.M.2
Edwards, R.H.T.3
Calverley, P.M.A.4
-
12
-
-
0036344202
-
Patterns and predictors of sleep disordered breathing in primary myopathies
-
DOI 10.1136/thorax.57.8.724
-
Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disorders breathing in primary myopathies. Thorax. 2002;57:724-8. (Pubitemid 34864531)
-
(2002)
Thorax
, vol.57
, Issue.8
, pp. 724-728
-
-
Ragette, R.1
Mellies, U.2
Schwake, C.3
Voit, T.4
Teschler, H.5
-
13
-
-
0036773266
-
Fracture prevalence in Duchenne muscular dystrophy
-
DOI 10.1017/S0012162201002778
-
McDonald DG, Kinale M, Gallagher AC, Mercuri E, Muntoni F, Roper H, et al. Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol. 2002;44:695-8. (Pubitemid 35230031)
-
(2002)
Developmental Medicine and Child Neurology
, vol.44
, Issue.10
, pp. 695-698
-
-
McDonald, D.G.M.1
Kinali, M.2
Gallagher, A.C.3
Mercuri, E.4
Muntoni, F.5
Roper, H.6
Jardine, P.7
Jones, D.H.8
Pike, M.G.9
-
14
-
-
0033962313
-
Bone mineral density and fractures in boys with Duchenne muscular dystrophy
-
DOI 10.1097/00004694-200001000-00016
-
Larson CM, Henderson RC. Bone mineral density and fractures in boys with Duchenne muscular dystrophy. J Pediatr Orthop. 2000;20:71-4 (Pubitemid 30013402)
-
(2000)
Journal of Pediatric Orthopaedics
, vol.20
, Issue.1
, pp. 71-74
-
-
Larson, C.M.1
Henderson, R.C.2
-
15
-
-
0036156243
-
Brain function in Duchenne muscular dystrophy
-
Anderson JL, Head SI, Rae C, Morley JW. Brain Function in Duchenne muscular dystrophy. Brain 2002; 125:4-13. (Pubitemid 34084032)
-
(2002)
Brain
, vol.125
, Issue.1
, pp. 4-13
-
-
Anderson, J.L.1
Head, S.I.2
Rae, C.3
Morley, J.W.4
-
16
-
-
0017560178
-
Analysis of motor development in children with progressive muscular dystrophy of Duchenne type
-
Krajewska G. Motor development in children with muscular dystrophy of the Duchenne type. Neurol Neurochir Pol. 1977;11:647-51. (Pubitemid 8259100)
-
(1977)
Neurologia i Neurochirurgia Polska
, vol.27
, Issue.6
, pp. 647-651
-
-
Krajewska, G.1
-
18
-
-
2442699165
-
Developmental progress in Duchenne muscular dystrophy: Lessons for earlier detection
-
DOI 10.1016/j.ejpn.2004.01.009
-
Parsons EP, Clarke AJ, Bradley DM. Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection. Eur J Paediatr Neurol. 2004;8:145-53. (Pubitemid 38659983)
-
(2004)
European Journal of Paediatric Neurology
, vol.8
, Issue.3
, pp. 145-153
-
-
Parsons, E.P.1
Clarke, A.J.2
Bradley, D.M.3
-
19
-
-
34247142867
-
Delayed Developmental Language Milestones in Children with Duchenne's Muscular Dystrophy
-
DOI 10.1016/j.jpeds.2006.12.045, PII S0022347607000133
-
Cyrulnik S, Fee RJ, De Vivo DC, Goldstein E, Hinton V. Delayed developmental language milestones in children with Duchenne's muscular dystrophy. J Pediatr. 2007;150:474-8. (Pubitemid 46602323)
-
(2007)
Journal of Pediatrics
, vol.150
, Issue.5
, pp. 474-478
-
-
Cyrulnik, S.E.1
Fee, R.J.2
De Vivo, D.C.3
Goldstein, E.4
Hinton, V.J.5
-
20
-
-
0036156243
-
Brain function in Duchenne muscular dystrophy
-
Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscular dystrofy. Brain 2002;125:4-13. (Pubitemid 34084032)
-
(2002)
Brain
, vol.125
, Issue.1
, pp. 4-13
-
-
Anderson, J.L.1
Head, S.I.2
Rae, C.3
Morley, J.W.4
-
21
-
-
0034933730
-
Intelligence and Duchenne muscular dystrophy: Full-scale, verbal, and performance intelligence quotients
-
Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol. 2001;43:497-501.
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 497-501
-
-
Cotton, S.1
Voudouris, N.J.2
Greenwood, K.M.3
-
22
-
-
0008023765
-
Mental retardation in association with progressive muscular dystrophy
-
Allen JE, Rodgin DW. Mental retardation in association with progressive muscular dystrophy. Am J Dis Child 1960;100:208-11.
-
(1960)
Am J Dis Child
, vol.100
, pp. 208-211
-
-
Allen, J.E.1
Rodgin, D.W.2
-
23
-
-
0018448516
-
Intellectual functioning in Duchenne muscular dystrophy: A review
-
Karagan NJ. Intellectual functioning in Duchenne muscular dystrophy: a review. Psychol Bull. 1979;86:250-9.
-
(1979)
Psychol Bull
, vol.86
, pp. 250-259
-
-
Karagan, N.J.1
-
25
-
-
0014497668
-
Intelligence and the gene for Duchenne muscular dystrophy
-
Prosser EJ, Murphy EG, Thompson MW. Intelligence and the gene for Duchenne muscular dystrophy. ArchDisChld. 1969;44:221-30.
-
(1969)
ArchDisChld
, vol.44
, pp. 221-230
-
-
Prosser, E.J.1
Murphy, E.G.2
Thompson, M.W.3
-
26
-
-
0015959257
-
Evidence for early impairment of verbal intelligence in Duchenne muscular dystrophy
-
Marsh GG, Munsat TL. Evidence for early impairment of verbal intelligence in Duchenne muscular dystrophy. Arch Dis Child. 1974;49:118-22.
-
(1974)
Arch Dis Child
, vol.49
, pp. 118-122
-
-
Marsh, G.G.1
Munsat, T.L.2
-
27
-
-
0035109506
-
Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy
-
DOI 10.1017/S1355617701711058
-
Hinton VJ, De Vivo DC, Nereo NE, Goldstein E, Stern Y. Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy. J IntNeuropsychol Soc. 2001;7:45-54. (Pubitemid 32177856)
-
(2001)
Journal of the International Neuropsychological Society
, vol.7
, Issue.1
, pp. 45-54
-
-
Hinton, V.J.1
De Vivo, D.C.2
Nereo, N.E.3
Goldstein, E.4
Stern, Y.5
-
28
-
-
1342282774
-
Specific cognitive deficits are common in children with Duchenne muscular dystrophy
-
DOI 10.1017/S0012162204000283
-
Wicksell RK, Kihlgren M, Melin L, Eeg-Olofsson O. Specific cognitive deficits are common in children with Duchenne muscular dystrophy. Dev Med Child Neurol. 2004;46:154-9. (Pubitemid 38263450)
-
(2004)
Developmental Medicine and Child Neurology
, vol.46
, Issue.3
, pp. 154-159
-
-
Wicksell, R.K.1
Kihlgren, M.2
Melin, L.3
Eeg-Olofsson, O.4
-
29
-
-
33845734893
-
Investigation of Poor Academic Achievement in Children with Duchenne Muscular Dystrophy
-
Hinton V J, De Vivo DC, Fee R, Goldstein E, Stern Y. Investigation of poor academic achievement in children with Duchenne muscular dystrophy. Learn Disabil Res Pract. 2004;19:146-54. (Pubitemid 38847171)
-
(2004)
LEARNING DISABILITIES RESEARCH AND PRACTICE
, vol.19
, Issue.3
, pp. 146-154
-
-
Hinton, V.J.1
De Vivo, D.C.2
Fee, R.3
Goldstein, E.4
Stern, Y.5
-
30
-
-
33847391558
-
Verbal and memory skills in males with Duchenne muscular dystrophy
-
DOI 10.1111/j.1469-8749.2007.00123.x
-
Hinton VJ, Fee RJ, Goldstein EM, De Vivo DC. Verbal and memory skills in males with Duchenne muscular dystrophy. Dev Med Child Neurol. 2007;49:123-8. (Pubitemid 46336285)
-
(2007)
Developmental Medicine and Child Neurology
, vol.49
, Issue.2
, pp. 123-128
-
-
Hinton, V.J.1
Fee, R.J.2
Goldstein, E.M.3
De Vivo, D.C.4
-
31
-
-
51349127853
-
Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD)
-
Cyrulnik SE, Fee RJ, Batchelder A, Kiefel J, Goldstein E, Hinton VJ. Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD). J Int Neuropsychol Soc. 2008;14:853-61.
-
(2008)
J Int Neuropsychol Soc
, vol.14
, pp. 853-861
-
-
Cyrulnik, S.E.1
Fee, R.J.2
Batchelder, A.3
Kiefel, J.4
Goldstein, E.5
Hinton, V.J.6
-
32
-
-
67649716564
-
Neurobehavioral characteristics of children with Duchenne muscular dystrophy
-
Epub 2009 Jan 22
-
Donders J, Taneja C. Neurobehavioral characteristics of children with Duchenne muscular dystrophy. Child Neuropsychol. 2009;15:295-304. Epub 2009 Jan 22.
-
(2009)
Child Neuropsychol
, vol.15
, pp. 295-304
-
-
Donders, J.1
Taneja, C.2
-
33
-
-
78650171188
-
Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy
-
Epub 2009 Nov 24
-
Wingeier K, Giger E, Strozzi S, Kreis R, Joncourt F, Conrad B, Gallati S, Steinlin M. Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy. J ClinNeurosci. 2009;18:90-5. Epub 2009 Nov 24.
-
(2009)
J ClinNeurosci
, vol.18
, pp. 90-95
-
-
Wingeier, K.1
Giger, E.2
Strozzi, S.3
Kreis, R.4
Joncourt, F.5
Conrad, B.6
Gallati, S.7
Steinlin, M.8
-
34
-
-
84912204323
-
Experimental tests of general intelligence
-
Burt C. Experimental tests of general intelligence. Br J Psychol. 1909;3:94-177.
-
(1909)
Br J Psychol
, vol.3
, pp. 94-177
-
-
Burt, C.1
-
35
-
-
12944261574
-
"Intelligence" tests
-
Spearman C. "Intelligence" tests. Eugen Rev. 1939;30:249-54.
-
(1939)
Eugen Rev
, vol.30
, pp. 249-254
-
-
Spearman, C.1
-
36
-
-
77049221240
-
Mental retardation in the infant and pre-school child; diagnosis and treatment
-
Jul 2
-
Illingworth, RS. Mental retardation in the infant and pre-school child; diagnosis and treatment. Br Med J. 1955 Jul 2;2(4930):1-7.
-
(1955)
Br Med J
, vol.2
, Issue.4930
, pp. 1-7
-
-
Illingworth, R.S.1
-
38
-
-
0021543329
-
Possible risk factors and signs of mental retardation (MR) - Comparative study of mentally retarded and normal children
-
Matsuishi T. Possible risk factors and signs of mental retardation (MR) - comparative study of mentally retarded and normal children. Kurume Med J. 1984;31:301-7.
-
(1984)
Kurume Med J
, vol.31
, pp. 301-307
-
-
Matsuishi, T.1
-
39
-
-
0012786301
-
-
World Health Organization. Division of Mental Health and Prevention of Substance Abuse. Geneva
-
World Health Organization. ICD-10 Guide for mental retardation. Division of Mental Health and Prevention of Substance Abuse. Geneva; 1996.
-
(1996)
ICD-10 Guide for Mental Retardation
-
-
-
40
-
-
0142215557
-
A rational approach to the child with mental retardation for the paediatrician
-
Lemay JF, Herbert AR, Dewey DM, Innes AM. A rational approach to the child with mental retardation for the paediatrician. Paediatr Child Health. 2003;8:345-56. (Pubitemid 37314242)
-
(2003)
Paediatrics and Child Health
, vol.8
, Issue.6
, pp. 345-356
-
-
Lemay, J.-F.1
Herbert, A.R.2
Dewey, D.M.3
Innes, A.M.4
-
41
-
-
0035379735
-
The epidemiology of mental retardation of unknown cause
-
Croen LA, Grether JK, Selvin S. The epidemiology of mental retardation of unknown cause. Pediatrics. 2001;107:e86.
-
(2001)
Pediatrics
, vol.107
-
-
Croen, L.A.1
Grether, J.K.2
Selvin, S.3
-
42
-
-
38649105136
-
Duchenne muscular dystrophy: A cerebellar disorder?
-
DOI 10.1016/j.neubiorev.2007.09.001, PII S014976340700111X
-
Cyrulnik SE, Hinton VJ. Duchenne muscular dystrophy: A cerebellar disorder? Neurosci Biobehav Rev. 2008;32:486-96. (Pubitemid 351173333)
-
(2008)
Neuroscience and Biobehavioral Reviews
, vol.32
, Issue.3
, pp. 486-496
-
-
Cyrulnik, S.E.1
Hinton, V.J.2
-
43
-
-
49649108595
-
Mental retardation and lifetime events of Duchenne muscular dystrophy in Japan
-
Mochizuki H, Miyatake S, Suzuki M, Shigeyama T, Yatabe K, Ogata K, et al. Mental retardation and lifetime events of Duchenne muscular dystrophy in Japan. Intern Med. 2008;47:1207-10.
-
(2008)
Intern Med
, vol.47
, pp. 1207-1210
-
-
Mochizuki, H.1
Miyatake, S.2
Suzuki, M.3
Shigeyama, T.4
Yatabe, K.5
Ogata, K.6
|