Volume 24; Issue 2

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Neuromuscular Disorders
Volume 24; Issue 2

Neuromuscular Disorders

Volume 24; Issue 2

1

Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study

Kirschner, J., Schorling, D., Hauschke, D., Rensing-Zimmermann, C., Wein, U., Grieben, U., Schottmann, G., Schara, U., Konrad, K., Müller-Felber, W., Thiele, S., Wilichowski, E., Hobbiebrunken, E., St

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 914 KB

english, 2014

2

Muscle-specific kinase antibody associated myasthenia gravis after bone marrow transplantation

Heidarzadeh, Zeinab, Mousavi, Seyyed-Asadollah, Ostovan, Vahid Reza, Nafissi, Shahriar

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 150 KB

english, 2014

3

Book review

Scalco, Renata Siciliani

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 40 KB

english, 2014

4

Diaphragmatic dysfunction in Collagen VI myopathies

Quijano-Roy, S., Khirani, S., Colella, M., Ramirez, A., Aloui, S., Wehbi, S., de Becdelievre, A., Carlier, R.Y., Allamand, V., Richard, P., Azzi, V., Estournet, B., Fauroux, B.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 962 KB

english, 2014

5

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 50 KB

english, 2014

6

Phosphorylase re-expression, increase in the force of contraction and decreased fatigue following notexin-induced muscle damage and regeneration in the ovine model of McArdle disease

Howell, J.McC., Walker, K.R., Creed, K.E., Dunton, E., Davies, L., Quinlivan, R., Karpati, G.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.11 MB

english, 2014

7

Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy

Komlósi, Katalin, Hadzsiev, Kinga, Garbes, Lutz, Martínez Carrera, Lilian A., Pál, Endre, Sigurðsson, Jóhann Haukur, Magnusson, Olafur, Melegh, Béla, Wirth, Brunhilde

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1023 KB

english, 2014

8

Inflammatory myopathy with abundant macrophages (IMAM): The immunology revisited

Rinnenthal, Jan Leo, Goebel, Hans-Hilmar, Preuße, Corinna, Lebenheim, Lydia, Schumann, Michael, Moos, Verena, Schneider, Thomas, Heppner, Frank L., Stenzel, Werner

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 2.28 MB

english, 2014

9

Approach to the diagnosis of congenital myopathies

North, Kathryn N., Wang, Ching H., Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J., Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H., Sewry, Caroline, Laing, Nigel G., Bönnem

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 8.21 MB

english, 2014

10

Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy

Fan, Zheng, Wang, Jiahui, Ahn, Mihye, Shiloh-Malawsky, Yael, Chahin, Nizar, Elmore, Sandra, Bagnell, C. Robert, Wilber, Kathy, An, Hongyu, Lin, Weili, Zhu, Hongtu, Styner, Martin, Kornegay, Joe N.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 3.08 MB

english, 2014

11

Book review

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 40 KB

english, 2014

12

Book review

Mazanti, Ingrid

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 68 KB

english, 2014

13

Novel TPM3 mutation in a family with cap myopathy and review of the literature

Schreckenbach, T., Schröder, J.M., Voit, T., Abicht, A., Neuen-Jacob, E., Roos, A., Bulst, S., Kuhl, C., Schulz, J.B., Weis, J., Claeys, K.G.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.46 MB

english, 2014

14

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

Webster, Richard, Liu, Wei-Wei, Chaouch, Amina, Lochmüller, Hanns, Beeson, David

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 336 KB

english, 2014

15

A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy

Jeppesen, Tina Dysgaard, Duno, Morten, Risom, Lotte, Wibrand, Flemming, Rafiq, Jabin, Krag, Thomas, Jakobsen, Johannes, Andersen, Henning, Vissing, John

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 963 KB

english, 2014

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