Volume 25; Issue 2

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Neuromuscular Disorders
Volume 25; Issue 2

Neuromuscular Disorders

Volume 25; Issue 2

1

Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis

Meyer, Alain, Lannes, Béatrice, Carapito, Raphaël, Bahram, Seiamak, Echaniz-Laguna, Andoni, Geny, Bernard, Sibilia, Jean, Gottenberg, Jacques Eric

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.41 MB

english, 2015

2

Investigating sodium valproate as a treatment for McArdle disease in sheep

Howell, J.McC., Dunton, E., Creed, K.E., Quinlivan, R., Sewry, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 516 KB

english, 2015

3

Muscle force, balance and falls in muscular impaired individuals with myotonic dystrophy type 1: A five-year prospective cohort study

Hammarén, Elisabet, Kjellby-Wendt, Gunilla, Lindberg, Christopher

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 732 KB

english, 2015

4

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands

Ferlini, Alessandra, Flanigan, Kevin M., Lochmuller, Hanns, Muntoni, Francesco, ‘t Hoen, Peter A.C., McNally, Elizabeth

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 604 KB

english, 2015

5

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

Morris, Glenn E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 342 KB

english, 2015

6

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure

Yue, Dongyue, Gao, Mingshi, Zhu, Wenhua, Luo, Sushan, Xi, Jianying, Wang, Bei, Li, Ying, Cai, Shuang, Li, Jin, Wang, Yin, Lu, Jiahong, Zhao, Chongbo

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

7

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation

Villa, Chet R., Ryan, Thomas D., Collins, James J., Taylor, Michael D., Lucky, Anne W., Jefferies, John L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 681 KB

english, 2015

8

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 72 KB

english, 2015

9

Clinical and electrophysiological features in a French family presenting with seipinopathy

Ollivier, Yolaine, Magot, Armelle, Latour, Philippe, Perrier, Julie, Mercier, Sandra, Maisonobe, Thierry, Péréon, Yann

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 763 KB

english, 2015

10

Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Vill, K., Schessl, J., Teusch, V., Schroeder, S., Blaschek, A., Schoser, B., Müller-Felber, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

11

A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Surampalli, Abhilasha, Gold, Brian T., Smith, Charles, Castellani, Rudy J., Khare, Manaswitha, Yu, Hon, Nguyen, Celeste, Lan, Mary, Wencel, Marie, Wigal, Sharon, Caiozzo, Vince, Kimonis, Virginia

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.67 MB

english, 2015

12

Isolated laryngeal myasthenia gravis for 26 years

Renard, Dimitri, Hedayat, Amir, Gagnard, Corinne

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 351 KB

english, 2015

13

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family

Lefter, Stela, Hardiman, Orla, McLaughlin, Russell L., Murphy, Sinead M., Farrell, Michael, Ryan, Aisling M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.87 MB

english, 2015

14

RYR1-related malignant hyperthermia with marked cerebellar involvement – A paradigm of heat-induced CNS injury?

Forrest, Katharine M.L., Foulds, Nicola, Millar, John S., Sutherland, Paul D., Pappachan, V. John, Holden, Samantha, Mein, Rachael, Hopkins, Philip M., Jungbluth, Heinz

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 607 KB

english, 2015

15

Growing up with spinal muscular atrophy with respiratory distress (SMARD1)

Hamilton, Mark James, Longman, Cheryl, O'Hara, Ann, Kirkpatrick, Martin, McWilliam, Robert

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 570 KB

english, 2015

16

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

Meinke, Peter, Schneiderat, Peter, Srsen, Vlastimil, Korfali, Nadia, Lê Thành, Phú, Cowan, Graeme J.M., Cavanagh, David R., Wehnert, Manfred, Schirmer, Eric C., Walter, Maggie C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.65 MB

english, 2015

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