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Items: 1 to 20 of 100

1.

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.

Ricci G, Scionti I, Alì G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G.

Neuromuscul Disord. 2012 Jun;22(6):534-40. doi: 10.1016/j.nmd.2011.12.001. Epub 2012 Jan 14.

2.

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC.

BMC Med Genet. 2013 Sep 16;14:92. doi: 10.1186/1471-2350-14-92.

3.

CAV3 T78M mutation as polymorphic variant in South Italy.

Spadafora P, Liguori M, Andreoli V, Quattrone A, Gambardella A.

Neuromuscul Disord. 2012 Jul;22(7):669-70; author reply 670-1. doi: 10.1016/j.nmd.2012.03.007. Epub 2012 May 16. No abstract available.

PMID:
22595201
4.

A novel missense mutation in the caveolin-3 gene in rippling muscle disease.

Lorenzoni PJ, Scola RH, Vieira N, Vainzof M, Carsten AL, Werneck LC.

Muscle Nerve. 2007 Aug;36(2):258-60.

PMID:
17405141
5.

Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.

Filosto M, Tonin P, Scarpelli M, Savio C, Greco F, Mancuso M, Vattemi G, Govoni V, Rizzuto N, Tupler R, Tomelleri G.

Neuromuscul Disord. 2008 Mar;18(3):204-9. doi: 10.1016/j.nmd.2007.12.005. Epub 2008 Mar 14.

PMID:
18343111
6.

Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.

Chen J, Zeng W, Han C, Wu J, Zhang H, Tong X.

Neuropathology. 2016 Oct;36(5):485-489. doi: 10.1111/neup.12297. Epub 2016 Mar 7.

PMID:
26947586
7.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.

J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3.

PMID:
22217918
8.

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C.

Lab Invest. 2008 Mar;88(3):275-83. doi: 10.1038/labinvest.3700713. Epub 2008 Feb 4.

9.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18.

10.

Caveolinopathy--new mutations and additional symptoms.

Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V.

Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25.

PMID:
18583131
11.

Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.

Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.

Hum Mutat. 2011 Mar;32(3):309-17. doi: 10.1002/humu.21431. Epub 2011 Feb 3.

12.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.

Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.

13.

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M.

Ann Neurol. 2003 Apr;53(4):512-20.

PMID:
12666119
14.

A CAV3 microdeletion differentially affects skeletal muscle and myocardium.

Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, Ciscato P, Fagiolari G, Bonato S, Galbiati S, Corti S, Lamperti C, Moggio M, Comi GP.

Neurology. 2003 Dec 9;61(11):1513-9.

PMID:
14663034
15.

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC.

J Neurol. 2010 Jul;257(7):1108-18. doi: 10.1007/s00415-010-5471-1. Epub 2010 Feb 10.

PMID:
20146070
16.

Rippling muscle disease: variable phenotype in a family with five afflicted members.

Jacobi C, Ruscheweyh R, Vorgerd M, Weber MA, Storch-Hagenlocher B, Meinck HM.

Muscle Nerve. 2010 Jan;41(1):128-32. doi: 10.1002/mus.21446.

PMID:
19697367
17.

[Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes].

Krasnianski M, Neudecker S, Eger K, Schulte-Mattler W, Zierz S.

Nervenarzt. 2003 Feb;74(2):151-8. German.

PMID:
12596016
18.
19.

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.

Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR.

Neurology. 2007 Feb 20;68(8):578-82. Epub 2007 Jan 17.

PMID:
17229919
20.

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.

Masciullo M, Iannaccone E, Bianchi ML, Santoro M, Conte G, Modoni A, Monforte M, Tasca G, Laschena F, Ricci E, Silvestri G.

Neuromuscul Disord. 2013 May;23(5):427-31. doi: 10.1016/j.nmd.2013.02.002. Epub 2013 Mar 1.

PMID:
23466272

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