Jungbluth H - Search Results

1

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H. Cullup T, et al. Among authors: jungbluth h. Neuromuscul Disord. 2012 Dec;22(12):1096-104. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10. Neuromuscul Disord. 2012. PMID: 22784669

2

Generalized calcification in a case of dermatomyositis.

Jungbluth H, Manzur AY, Bydder G, Muntoni F. Jungbluth H, et al. Neuromuscul Disord. 2000 Feb;10(2):150. doi: 10.1016/s0960-8966(99)00067-x. Neuromuscul Disord. 2000. PMID: 10714592 No abstract available.

3

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).

Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F. Mercuri E, et al. Among authors: jungbluth h. Neurology. 2000 Apr 25;54(8):1704-5. doi: 10.1212/wnl.54.8.1704. Neurology. 2000. PMID: 10762524 No abstract available.

4

An unusual case of hyperekplexia.

Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F. Jungbluth H, et al. Eur J Paediatr Neurol. 2000;4(2):77-80. doi: 10.1053/ejpn.1999.0267. Eur J Paediatr Neurol. 2000. PMID: 10817489

5

Minicore myopathy in children: a clinical and histopathological study of 19 cases.

Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Jungbluth H, et al. Neuromuscul Disord. 2000 Jun;10(4-5):264-73. doi: 10.1016/s0960-8966(99)00125-x. Neuromuscul Disord. 2000. PMID: 10838253

6

Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?

Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, Counsell S, Manzur A, Muntoni F. Mercuri E, et al. Among authors: jungbluth h. Neuropediatrics. 2000 Aug;31(4):186-9. doi: 10.1055/s-2000-7460. Neuropediatrics. 2000. PMID: 11071142

7

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F. Jungbluth H, et al. Neuromuscul Disord. 2001 Jan;11(1):35-40. doi: 10.1016/s0960-8966(00)00167-x. Neuromuscul Disord. 2001. PMID: 11166164

8

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni F. Sewry CA, et al. Among authors: jungbluth h. Neuromuscul Disord. 2001 Mar;11(2):146-53. doi: 10.1016/s0960-8966(00)00172-3. Neuromuscul Disord. 2001. PMID: 11257470

9

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F. Mercuri E, et al. Among authors: jungbluth h. Neuropediatrics. 2002 Feb;33(1):10-4. doi: 10.1055/s-2002-23593. Neuropediatrics. 2002. PMID: 11930270

10

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.

Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F. Mercuri E, et al. Among authors: jungbluth h. Neurology. 2002 May 14;58(9):1354-9. doi: 10.1212/wnl.58.9.1354. Neurology. 2002. PMID: 12011280

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