-
1
-
-
21444450805
-
Clinical and molecular aspects of the myotonic dystrophies: a review
-
Machuca-tzili L, Brook D, Hilton-jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005;32:1-18.
-
(2005)
Muscle Nerve
, vol.32
, pp. 1-18
-
-
Machuca-tzili, L.1
Brook, D.2
Hilton-jones, D.3
-
2
-
-
8744295714
-
Myotonic dystrophy type 2 and related myotonic disorders
-
Meola G, Moxley RT 3rd. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol 2004;251:1173-82.
-
(2004)
J Neurol
, vol.251
, pp. 1173-1182
-
-
Meola, G.1
Moxley 3rd, R.T.2
-
3
-
-
33749261633
-
Myotonic dystrophies type 1 and 2: a summary on current aspects
-
Schara U, Schoser BG. Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin Pediatr Neurol 2006;13:71-9.
-
(2006)
Semin Pediatr Neurol
, vol.13
, pp. 71-79
-
-
Schara, U.1
Schoser, B.G.2
-
4
-
-
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 JD, Mccurrach ME, Harley HG, 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 1992;68:799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
Mccurrach, M.E.2
Harley, H.G.3
-
5
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-8.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
-
6
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu Yh, Pizzuti A, Fenwick RG Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-8.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.1
Pizzuti, A.2
Fenwick Jr., R.G.3
-
7
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545-6.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.G.1
Brook, J.D.2
Rundle, S.A.3
-
8
-
-
0001125916
-
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
-
The International Myotonic Dystrophy Consortium (IDMC)
-
The International Myotonic Dystrophy Consortium (IDMC). New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000;54:1218-21.
-
(2000)
Neurology
, vol.54
, pp. 1218-1221
-
-
-
9
-
-
33747517559
-
Italian guidelines for molecular analysis in myotonic dystrophies
-
Botta A, Bonifazi E, Vallo L, et al. Italian guidelines for molecular analysis in myotonic dystrophies. Acta Myol 2006;25:23-33.
-
(2006)
Acta Myol
, vol.25
, pp. 23-33
-
-
Botta, A.1
Bonifazi, E.2
Vallo, L.3
-
10
-
-
23744435181
-
Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist
-
Hammarén E, Kjellby-Wendt G, Lindberg C. Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist. Neuromuscul Disord 2005;15:610-7.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 610-617
-
-
Hammarén, E.1
Kjellby-Wendt, G.2
Lindberg, C.3
-
11
-
-
36348982334
-
Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy
-
Kierkegaard M, Tollbäck A. Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy. Neuromuscul Disord 2007;17:943-9.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 943-949
-
-
Kierkegaard, M.1
Tollbäck, A.2
-
12
-
-
34548277627
-
Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1)
-
Moxley RT 3rd, Logigian EL, Martens WB, et al. Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1). Muscle Nerve 2007;36:320-8.
-
(2007)
Muscle Nerve
, vol.36
, pp. 320-328
-
-
Moxley 3rd, R.T.1
Logigian, E.L.2
Martens, W.B.3
-
14
-
-
34147108157
-
Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL)
-
Vincent KA, Carr AJ, Walburn J, Scott DL, Rose MR. Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL). Neurology 2007;68:1051-7.
-
(2007)
Neurology
, vol.68
, pp. 1051-1057
-
-
Vincent, K.A.1
Carr, A.J.2
Walburn, J.3
Scott, D.L.4
Rose, M.R.5
-
20
-
-
0016823810
-
'Mini-mental state'. A practical method for grading the cognitive state of patients for the clinician
-
Folstein MF, Folstein SE, Mchugh PR. 'Mini-mental state'. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-98.
-
(1975)
J Psychiatr Res
, vol.12
, pp. 189-198
-
-
Folstein, M.F.1
Folstein, S.E.2
Mchugh, P.R.3
-
23
-
-
0019161221
-
Human diabetic endoneurial sorbitol, fructose, and myo-inositol related to sural nerve morphometry
-
Dyck PJ, Sherman WR, Hallcher LM, et al. Human diabetic endoneurial sorbitol, fructose, and myo-inositol related to sural nerve morphometry. Ann Neurol 1980;8:590-6.
-
(1980)
Ann Neurol
, vol.8
, pp. 590-596
-
-
Dyck, P.J.1
Sherman, W.R.2
Hallcher, L.M.3
-
24
-
-
0001248052
-
Quantitating severity of neuropathy
-
Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds., 3rd edn. Philadelphia: WB Saunders
-
Dyck PJ. Quantitating severity of neuropathy. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy, 3rd edn. Philadelphia: WB Saunders, 1993;686-97.
-
(1993)
Peripheral neuropathy
, pp. 686-697
-
-
Dyck, P.J.1
-
25
-
-
70450195021
-
Functional evaluation: The Barthel Index
-
Mahoney FI, Barthel DW. Functional evaluation: The Barthel Index. Md State Med J 1965;14:61-5.
-
(1965)
Md State Med J
, vol.14
, pp. 61-65
-
-
Mahoney, F.I.1
Barthel, D.W.2
-
26
-
-
84907040929
-
The Rivermead mobility index: a further development of the Rivermead motor assessment
-
Collen FM, Wade DT, Robb GF, Bradshaw CM. The Rivermead mobility index: a further development of the Rivermead motor assessment. Int Disabil Stud 1991;13:50-4.
-
(1991)
Int Disabil Stud
, vol.13
, pp. 50-54
-
-
Collen, F.M.1
Wade, D.T.2
Robb, G.F.3
Bradshaw, C.M.4
-
27
-
-
0027985038
-
The Groningen activity restriction scale for measuring disability: its utility in international comparisons
-
Suurmeijer TP, Doeglas DM, Moum T, et al. The Groningen activity restriction scale for measuring disability: its utility in international comparisons. Am J Public Health 1994;84:1270-3.
-
(1994)
Am J Public Health
, vol.84
, pp. 1270-1273
-
-
Suurmeijer, T.P.1
Doeglas, D.M.2
Moum, T.3
-
28
-
-
0026333617
-
A new method for measuring daytime sleepiness: the Epworth sleepiness scale
-
Johns MW. A new method for measuring daytime sleepiness: the Epworth sleepiness scale. Sleep 1991;14:540-5.
-
(1991)
Sleep
, vol.14
, pp. 540-545
-
-
Johns, M.W.1
-
29
-
-
3343019470
-
Measuring nominal scale agreement among many raters
-
Fleiss JL. Measuring nominal scale agreement among many raters. Psychol Bull 1971;76:378-82.
-
(1971)
Psychol Bull
, vol.76
, pp. 378-382
-
-
Fleiss, J.L.1
-
30
-
-
0016750401
-
Measuring agreement between two judges on the presence or absence of a trait
-
Fleiss JL. Measuring agreement between two judges on the presence or absence of a trait. Biometrics 1975;31:651-9.
-
(1975)
Biometrics
, vol.31
, pp. 651-659
-
-
Fleiss, J.L.1
-
32
-
-
33845945922
-
Coefficient alpha and the internal structure of the tests
-
Cronbach LJ. Coefficient alpha and the internal structure of the tests. Psychometrika 1951;16:297-334.
-
(1951)
Psychometrika
, vol.16
, pp. 297-334
-
-
Cronbach, L.J.1
-
33
-
-
28344432344
-
New classification and treatment for myotonic disorders
-
Kurihara T. New classification and treatment for myotonic disorders. Int Med 2005;44:1027-32.
-
(2005)
Int Med
, vol.44
, pp. 1027-1032
-
-
Kurihara, T.1
-
34
-
-
0034444232
-
Therapy in myotonic disorders and in muscle channelopathies
-
Meola G, Sansone V. Therapy in myotonic disorders and in muscle channelopathies. Neurol Sci 2000;21:S953-61.
-
(2000)
Neurol Sci
, vol.21
-
-
Meola, G.1
Sansone, V.2
-
36
-
-
84860117023
-
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1
-
Logigian EL, Martens WB, Moxley RT 4th, et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology 2010;4:74.
-
(2010)
Neurology
, vol.4
, pp. 74
-
-
Logigian, E.L.1
Martens, W.B.2
Moxley 4th, R.T.3
|