-
1
-
-
0026566108
-
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook J.D., McCurrach M.E., Harley H.G., et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68 (1992) 799-808
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
3
-
-
0025794158
-
Genetic risks for children of women with myotonic dystrophy
-
Koch M.C., Grimm T., Harley H.G., and Harper P.S. Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 48 (1991) 1084-1091
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1084-1091
-
-
Koch, M.C.1
Grimm, T.2
Harley, H.G.3
Harper, P.S.4
-
4
-
-
51449093262
-
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms
-
Ekstrom A.B., Hakenas-Plate L., Samuelsson L., et al. Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms. Am J Med Genet B Neuropsychiatr Genet 147B (2008) 918-926
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 918-926
-
-
Ekstrom, A.B.1
Hakenas-Plate, L.2
Samuelsson, L.3
-
5
-
-
21244434282
-
Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence
-
Kroksmark A.K., Ekstrom A.B., Bjorck E., and Tulinius M. Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence. Dev Med Child Neurol 47 (2005) 478-485
-
(2005)
Dev Med Child Neurol
, vol.47
, pp. 478-485
-
-
Kroksmark, A.K.1
Ekstrom, A.B.2
Bjorck, E.3
Tulinius, M.4
-
6
-
-
73349092445
-
Cognition and adaptive skills in myotonic dystrophy type 1: a study on 55 Individuals with congenital and childhood forms
-
Ekstrom A.B., Hakenas-Plate L., Tulinius M., and Wentz E. Cognition and adaptive skills in myotonic dystrophy type 1: a study on 55 Individuals with congenital and childhood forms. Dev Med Child Neurol 51 (2009) 982-990
-
(2009)
Dev Med Child Neurol
, vol.51
, pp. 982-990
-
-
Ekstrom, A.B.1
Hakenas-Plate, L.2
Tulinius, M.3
Wentz, E.4
-
8
-
-
0024548825
-
Clinical and electrophysiological abnormalities in the visual system in myotonic dystrophy
-
Kerty E., and Ganes T. Clinical and electrophysiological abnormalities in the visual system in myotonic dystrophy. Ophthalmologica 198 (1989) 95-102
-
(1989)
Ophthalmologica
, vol.198
, pp. 95-102
-
-
Kerty, E.1
Ganes, T.2
-
9
-
-
39749097872
-
Hypermetropia and esotropia in myotonic dystrophy
-
Bollinger K.E., Kattouf V., Arthur B., et al. Hypermetropia and esotropia in myotonic dystrophy. J AAPOS 12 (2008) 69-71
-
(2008)
J AAPOS
, vol.12
, pp. 69-71
-
-
Bollinger, K.E.1
Kattouf, V.2
Arthur, B.3
-
10
-
-
33645473603
-
Ophthalmological findings in a sample of Swedish children aged 4-15 years
-
Gronlund M.A., Andersson S., Aring E., et al. Ophthalmological findings in a sample of Swedish children aged 4-15 years. Acta Ophthalmol Scand 84 (2006) 169-176
-
(2006)
Acta Ophthalmol Scand
, vol.84
, pp. 169-176
-
-
Gronlund, M.A.1
Andersson, S.2
Aring, E.3
-
11
-
-
0036227117
-
Ophthalmological abnormalities in children with cerebral white matter disorders
-
Kristjansdottir R., Sjostrom A., and Uvebrant P. Ophthalmological abnormalities in children with cerebral white matter disorders. Eur J Paediatr Neurol 6 (2002) 25-33
-
(2002)
Eur J Paediatr Neurol
, vol.6
, pp. 25-33
-
-
Kristjansdottir, R.1
Sjostrom, A.2
Uvebrant, P.3
-
12
-
-
77951622850
-
-
International Statistical Classification of Diseases and Related Health Problems, World Health Organization, Geneva, Switzerland Accessed November 10, 2009
-
International Statistical Classification of Diseases and Related Health Problems. 10th revision, version for 2003. Diseases of the eye and adnexa (H00-H59). H54: blindness and low vision (2003), World Health Organization, Geneva, Switzerland. http://apps.who.int/classifications/apps/icd/icd10online2003/fr-icd.htm Accessed November 10, 2009
-
(2003)
10th revision, version for 2003. Diseases of the eye and adnexa (H00-H59). H54: blindness and low vision
-
-
-
13
-
-
0034756087
-
Cycloplegic refractions in healthy children aged 1 through 48 months
-
Mayer D.L., Hansen R.M., Moore B.D., et al. Cycloplegic refractions in healthy children aged 1 through 48 months. Arch Ophthalmol 119 (2001) 1625-1628
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 1625-1628
-
-
Mayer, D.L.1
Hansen, R.M.2
Moore, B.D.3
-
14
-
-
79959316321
-
-
American Academy of Ophthalmology Pediatric Ophthalmology/Strabismus Panel, American Academy of Ophthalmology, San Francisco, CA Accessed November 10, 2009
-
American Academy of Ophthalmology Pediatric Ophthalmology/Strabismus Panel. Preferred Practice Pattern. Pediatric Eye Evaluations (2007), American Academy of Ophthalmology, San Francisco, CA 17. http://one.aao.org/CE/PracticeGuidelines Accessed November 10, 2009
-
(2007)
Preferred Practice Pattern. Pediatric Eye Evaluations
, pp. 17
-
-
-
15
-
-
0029774286
-
Transillumination of iris and subnormal visual acuity-ocular albinism?
-
Sjodell L., Sjostrom A., and Abrahamsson M. Transillumination of iris and subnormal visual acuity-ocular albinism?. Br J Ophthalmol 80 (1996) 617-623
-
(1996)
Br J Ophthalmol
, vol.80
, pp. 617-623
-
-
Sjodell, L.1
Sjostrom, A.2
Abrahamsson, M.3
-
16
-
-
0030928371
-
Visual impairment in Swedish children. I. Register and prevalence data
-
Blohme J., and Tornqvist K. Visual impairment in Swedish children. I. Register and prevalence data. Acta Ophthalmol Scand 75 (1997) 194-198
-
(1997)
Acta Ophthalmol Scand
, vol.75
, pp. 194-198
-
-
Blohme, J.1
Tornqvist, K.2
-
19
-
-
58849152143
-
Intraocular pressure and corneal biomechanical properties in patients with myotonic dystrophy
-
Rosa N., Lanza M., Borrelli M., et al. Intraocular pressure and corneal biomechanical properties in patients with myotonic dystrophy. Ophthalmology 116 (2009) 231-234
-
(2009)
Ophthalmology
, vol.116
, pp. 231-234
-
-
Rosa, N.1
Lanza, M.2
Borrelli, M.3
-
20
-
-
0032895720
-
Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy
-
Martinello F., Piazza A., Pastorello E., et al. Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy. J Neurol 246 (1999) 186-192
-
(1999)
J Neurol
, vol.246
, pp. 186-192
-
-
Martinello, F.1
Piazza, A.2
Pastorello, E.3
-
21
-
-
0344673389
-
Refractive errors in children with cerebral palsy, psychomotor retardation, and other non-cerebral palsy neuromotor disabilities
-
Sobrado P., Suarez J., Garcia-Sanchez F.A., and Uson E. Refractive errors in children with cerebral palsy, psychomotor retardation, and other non-cerebral palsy neuromotor disabilities. Dev Med Child Neurol 41 (1999) 396-403
-
(1999)
Dev Med Child Neurol
, vol.41
, pp. 396-403
-
-
Sobrado, P.1
Suarez, J.2
Garcia-Sanchez, F.A.3
Uson, E.4
-
23
-
-
0034019306
-
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy
-
Klesert T.R., Cho D.H., Clark J.I., et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet 25 (2000) 105-109
-
(2000)
Nat Genet
, vol.25
, pp. 105-109
-
-
Klesert, T.R.1
Cho, D.H.2
Clark, J.I.3
-
24
-
-
0027212456
-
Retinal changes in myotonic dystrophy: clinical and follow-up evaluation
-
Kimizuka Y., Kiyosawa M., Tamai M., and Takase S. Retinal changes in myotonic dystrophy: clinical and follow-up evaluation. Retina 13 (1993) 129-135
-
(1993)
Retina
, vol.13
, pp. 129-135
-
-
Kimizuka, Y.1
Kiyosawa, M.2
Tamai, M.3
Takase, S.4
-
25
-
-
0033360432
-
The neonatal development of the light flash visual evoked potential
-
Kraemer M., Abrahamsson M., and Sjostrom A. The neonatal development of the light flash visual evoked potential. Doc Ophthalmol 99 (1999) 21-39
-
(1999)
Doc Ophthalmol
, vol.99
, pp. 21-39
-
-
Kraemer, M.1
Abrahamsson, M.2
Sjostrom, A.3
-
26
-
-
84907114438
-
A practical approach to albino diagnosis: VEP misrouting across the age span
-
Apkarian P. A practical approach to albino diagnosis: VEP misrouting across the age span. Ophthalmic Paediatr Genet 13 (1992) 77-88
-
(1992)
Ophthalmic Paediatr Genet
, vol.13
, pp. 77-88
-
-
Apkarian, P.1
-
27
-
-
0035511532
-
Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children
-
Sjostrom A., Kraemer M., Ohlsson J., and Villarreal G. Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children. Doc Ophthalmol 103 (2001) 35-46
-
(2001)
Doc Ophthalmol
, vol.103
, pp. 35-46
-
-
Sjostrom, A.1
Kraemer, M.2
Ohlsson, J.3
Villarreal, G.4
-
28
-
-
34548207303
-
Cerebral involvement in myotonic dystrophies
-
Meola G., and Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve 36 (2007) 294-306
-
(2007)
Muscle Nerve
, vol.36
, pp. 294-306
-
-
Meola, G.1
Sansone, V.2
|