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Items: 1 to 20 of 74

1.

Genetic evaluation of inherited muscle diseases.

Baloh RH.

Continuum (Minneap Minn). 2011 Apr;17(2 Neurogenetics):280-93. doi: 10.1212/01.CON.0000396962.75069.2f.

PMID:
22810820
2.

[The genetic basis of muscle disease].

Bindoff L, Gilhus NE.

Tidsskr Nor Laegeforen. 2003 Sep 25;123(18):2588-92. Review. Norwegian.

PMID:
14714051
3.

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F.

Neuromuscul Disord. 2005 Feb;15(2):164-71. Epub 2004 Nov 26.

PMID:
15694138
4.

Oral health considerations in muscular dystrophies.

Balasubramaniam R, Sollecito TP, Stoopler ET.

Spec Care Dentist. 2008 Nov-Dec;28(6):243-53. doi: 10.1111/j.1754-4505.2008.00047.x. Review.

PMID:
19068065
5.

Population frequencies of inherited neuromuscular diseases--a world survey.

Emery AE.

Neuromuscul Disord. 1991;1(1):19-29. Review.

PMID:
1822774
6.

[Anesthesia preoperative preparation of muscular dystrophy].

Yamauchi H, Sobue K.

Masui. 2010 Sep;59(9):1093-5. Review. Japanese.

PMID:
20857662
7.

Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B.

Tsao CY, Mendell JR.

J Child Neurol. 2009 Mar;24(3):346-8. doi: 10.1177/0883073808323525.

PMID:
19258295
8.

The muscular dystrophies.

Bushby KM.

Baillieres Clin Neurol. 1994 Aug;3(2):407-30. Review.

PMID:
7952855
9.

Animal models for genetic neuromuscular diseases.

Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU.

J Mol Neurosci. 2008 Mar;34(3):241-8. doi: 10.1007/s12031-007-9023-9. Epub 2008 Jan 18. Review.

PMID:
18202836
10.

Inherited neuromuscular disorders: pathway to diagnosis.

Menezes MP, North KN.

J Paediatr Child Health. 2012 Jun;48(6):458-65. doi: 10.1111/j.1440-1754.2011.02210.x. Epub 2011 Nov 3. Review.

PMID:
22050238
11.

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies.

Stramare R, Beltrame V, Dal Borgo R, Gallimberti L, Frigo AC, Pegoraro E, Angelini C, Rubaltelli L, Feltrin GP.

Radiol Med. 2010 Jun;115(4):585-99. doi: 10.1007/s11547-010-0531-2. Epub 2010 Feb 22. English, Italian.

PMID:
20177980
12.

Possible neurogenic factor in muscular dystrophy: its similarity to denervation atrophy.

Dastur DK, Razzak ZA.

J Neurol Neurosurg Psychiatry. 1973 Jun;36(3):399-410.

13.

[Autosomal recessive limb-girdle muscular dystrophy].

Hernández-Caballero ME, Miranda-Duarte A, Escobar-Cedillo RE, Villegas-Castrejon H.

Rev Neurol. 2010 Oct 16;51(8):489-96. Review. Spanish.

14.

[Myopathology. New concept. New laboratory].

Navarro C, Teijeira S.

Neurologia. 2004 May;19(4):168-82. Review. Spanish.

PMID:
15131736
15.

Congenital muscular dystrophy in Jordanian children.

Al-Qudah AA, Tarawneh M.

J Child Neurol. 1998 Aug;13(8):383-6.

PMID:
9721893
16.

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T.

Clin Genet. 2016 May 16. doi: 10.1111/cge.12801. [Epub ahead of print] Review.

PMID:
27197572
17.

Diagnostic challenges in facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C.

Neurology. 2006 Oct 24;67(8):1464-6.

PMID:
17060574
18.

[Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].

Jordan B, Müller-Reible C, Zierz S.

Nervenarzt. 2011 Jun;82(6):712-22. doi: 10.1007/s00115-010-2968-x. German.

PMID:
21567298
19.

Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).

Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP.

Neurogenetics. 1997 May;1(1):49-58.

PMID:
10735275
20.

[Pentose phosphate pathway in neuromuscular diseases--evaluation of muscular glucose 6-phosphate dehydrogenase activity and RNA content].

Konagaya M, Konagaya Y, Horikawa H, Iida M.

Rinsho Shinkeigaku. 1990 Oct;30(10):1078-83. Japanese.

PMID:
1703936
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