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Items: 1 to 20 of 93

1.

Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation.

Mathieu J, De Braekeleer M, Prévost C, Boily C.

Neurology. 1992 Jan;42(1):203-8. Erratum in: Neurology 1992 Mar;42(3 Pt 1):689.

PMID:
1734305
2.

Genotype-phenotype correlation in myotonic dystrophy.

Gharehbaghi-Schnell EB, Finsterer J, Korschineck I, Mamoli B, Binder BR.

Clin Genet. 1998 Jan;53(1):20-6.

PMID:
9550357
3.

Quantitative motor assessment in myotonic dystrophy.

Mathieu J, Boivin H, Richards CL.

Can J Neurol Sci. 2003 May;30(2):129-36.

PMID:
12774952
4.
5.

Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy.

Mathieu J, Boivin H, Meunier D, Gaudreault M, Bégin P.

Neurology. 2001 Feb 13;56(3):336-40.

PMID:
11171898
6.

[Orofacial evaluation with a punctuation scale in patients with myotonic dystrophy (Steinert's disease)].

Noronha CF, Alves Duro LA.

Arq Neuropsiquiatr. 1995 Sep;53(3-A):424-31. Portuguese.

PMID:
8540816
7.

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R.

Am J Hum Genet. 2003 Oct;73(4):835-48. Epub 2003 Sep 10.

8.

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2).

Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LP.

Neuromuscul Disord. 1999 Jan;9(1):19-27.

PMID:
10063831
9.

[Myotonic dystrophy: II. Marital status, fertility and gene transmission].

Veillette S, Perron M, Mathieu J.

Can J Neurol Sci. 1989 Feb;16(1):114-8. French.

PMID:
2924204
10.

Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada).

Mathieu J, De Braekeleer M, Prévost C.

Neurology. 1990 May;40(5):839-42.

PMID:
2330114
11.

Relation of CTG expansion and clinical variables to electrocardiogram conduction abnormalities and sudden death in patients with myotonic dystrophy.

Sabovic M, Medica I, Logar N, Mandić E, Zidar J, Peterlin B.

Neuromuscul Disord. 2003 Dec;13(10):822-6.

PMID:
14678805
12.

Cognitive function in myotonic dystrophy: a follow-up study.

Tuikka RA, Laaksonen RK, Somer HV.

Eur Neurol. 1993;33(6):436-41.

PMID:
8307065
13.

Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy.

López de Munain A, Cobo AM, Sáenz A, Blanco A, Poza JJ, Martorell L, Martí-Massó JF, Baiget M.

Genet Epidemiol. 1996;13(5):483-7.

PMID:
8905394
14.

[Clinical symptoms and disability of myotonic dystrophy in Japan].

Matsuoka Y, Saida K, Nishitani H, Takahashi A.

No To Shinkei. 1988 Oct;40(10):947-52. Japanese.

PMID:
3196498
15.

Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1.

Groh WJ, Lowe MR, Simmons Z, Bhakta D, Pascuzzi RM.

Muscle Nerve. 2005 Jun;31(6):719-24.

PMID:
15770673
16.

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

Wong LJ, Ashizawa T, Monckton DG, Caskey CT, Richards CS.

Am J Hum Genet. 1995 Jan;56(1):114-22.

17.

Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data.

Di Leo R, Rodolico C, De Gregorio C, Recupero A, Coglitore S, Annesi G, Toscano A, Messina C, Vita G.

Neuromuscul Disord. 2004 Feb;14(2):136-41.

PMID:
14733960
18.

[Muscular disability and organ impairments in myotonic dystrophy type 1].

Pruna L, Machado F, Louis L, Vassé G, Kaminsky P.

Rev Neurol (Paris). 2011 Jan;167(1):23-8. doi: 10.1016/j.neurol.2010.07.026. Epub 2010 Oct 8. French.

PMID:
20934732
19.

[Spreading of the gene for myotonic dystrophy in Saguenay (Quebec)].

Bouchard G, Roy R, Declos M, Kouladjian K, Mathieu J.

J Genet Hum. 1988 Jun;36(3):221-37. French.

PMID:
3411303
20.

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