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Items: 1 to 20 of 85

1.

MRI findings in Fukuyama congenital muscular dystrophy: a rare case report.

Jakkani RK, Sureka J, Shyam S, Mani S.

Acta Neurol Belg. 2012 Dec;112(4):401-3. doi: 10.1007/s13760-012-0077-2. Epub 2012 May 3. No abstract available.

PMID:
22553003
2.

Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.

Jang DH, Sung IY, Ko TS.

J Child Neurol. 2013 Jan;28(1):132-7. doi: 10.1177/0883073812437425. Epub 2012 Feb 28.

PMID:
22378666
3.

Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.

Kondo H, Tanda K, Tabata C, Hayashi K, Kihara M, Kizaki Z, Taniguchi-Ikeda M, Mori M, Murayama K, Ohtake A.

Brain Dev. 2014 Sep;36(8):730-3. doi: 10.1016/j.braindev.2013.09.005. Epub 2013 Oct 7.

PMID:
24113355
4.

Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.

Yang H, Kobayashi K, Wang S, Jiao H, Xiao J, Toda T, Wu X, Xiong H.

Brain Dev. 2015 Oct;37(9):880-6. doi: 10.1016/j.braindev.2015.02.010. Epub 2015 Mar 23.

PMID:
25814170
5.

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.

Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsöld R, Helliwell TR, Appleton R, et al.

Neuropediatrics. 1995 Jun;26(3):148-55.

PMID:
7477753
6.

Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence.

Rathod SB, Baheti AD, Dabhade PT, Sankhe SS.

Magn Reson Med Sci. 2012;11(2):137-40.

7.

Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy.

Kato Z, Morimoto M, Orii KE, Kato T, Kondo N.

Pediatr Radiol. 2010 Dec;40 Suppl 1:S127-9. doi: 10.1007/s00247-010-1724-5. Epub 2010 Jun 23.

PMID:
20571791
8.

Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy.

Yoda M, Tanabe H, Nishino I, Suma H.

Eur J Cardiothorac Surg. 2011 Aug;40(2):514-6. doi: 10.1016/j.ejcts.2010.12.018. Epub 2011 Jan 26.

PMID:
21276730
9.

Long-term survival in a patient with muscle-eye-brain disease.

Falsaperla R, Giunta L, Lubrano R, Foti R, Vitaliti G.

Neurol Sci. 2015 Nov;36(11):2147-9. doi: 10.1007/s10072-015-2321-z. Epub 2015 Jul 8. No abstract available.

PMID:
26152802
10.

Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy.

Di Rocco M, Leveratto L, Cama A, Bado M, Tortori Donati P, Andreussi L, Borrone C.

Genet Couns. 1993;4(4):295-8.

PMID:
8110418
11.

Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.

Philpot J, Cowan F, Pennock J, Sewry C, Dubowitz V, Bydder G, Muntoni F.

Neuromuscul Disord. 1999 Mar;9(2):81-5.

PMID:
10220862
12.

Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities.

Lee CY.

Hong Kong Med J. 2014 Dec;20(6):556.e4-5. doi: 10.12809/hkmj134137. No abstract available.

13.

[Congenital muscular dystrophies: muscle-eye-brain disease].

Meyer S, Struffert T, Uyanik G, Oehl-Jaschkowitz B, Hehr U, Shamdeen MG.

Klin Padiatr. 2005 Mar-Apr;217(2):68-9. German.

PMID:
15770576
14.

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

Voit T, Parano E, Straub V, Schröder JM, Schaper J, Pavone P, Falsaperla R, Pavone L, Herrmann R.

Neuromuscul Disord. 2002 Oct;12(7-8):623-30.

PMID:
12207929
15.

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Shaheen R, Faqeih E, Ansari S, Alkuraya FS.

Neurogenetics. 2013 Nov;14(3-4):243-5. doi: 10.1007/s10048-013-0367-8. Epub 2013 Jul 23.

PMID:
23877401
16.

[Immunohistochemical analysis of brainstem functions in autopsy cases of Fukuyama congenital muscular dystrophy].

Nakajima K, Hayashi M.

No To Hattatsu. 2013 Nov;45(6):436-9. Japanese.

PMID:
24313002
17.

Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.

Ruggieri V, Lubieniecki F, Meli F, Diaz D, Ferragut E, Saito K, Brockington M, Muntoni F, Fukuyama Y, Taratuto AL.

Neuromuscul Disord. 2001 Sep;11(6-7):570-8.

PMID:
11525887
18.

Anesthesia for a child with Walker-Warburg syndrome.

Kose EA, Bakar B, Ates G, Aliefendioglu D, Apan A.

Braz J Anesthesiol. 2014 Mar-Apr;64(2):128-30. doi: 10.1016/j.bjane.2012.12.002. Epub 2013 Oct 11.

19.

Walker-Warburg syndrome in a Japanese patient.

Tachi N, Tachi M, Sasaki K, Tanabe C, Minagawa K.

Pediatr Neurol. 1988 Jul-Aug;4(4):236-40. Review.

PMID:
3072008
20.

[A case of Fukuyama type congenital muscular dystrophy--cranial MRI findings prior to the onset of neuromuscular signs].

Takanashi J, Wataki K, Iai M, Sugita K, Tanabe Y.

No To Hattatsu. 1989 Nov;21(6):588-9. Japanese. No abstract available.

PMID:
2803819

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