Volume 24; Issue 8

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Neuromuscular Disorders
Volume 24; Issue 8

Neuromuscular Disorders

Volume 24; Issue 8

1

Characteristics of muscle cramps in patients with polyneuropathy

Maxwell, Sarah K., Kokokyi, Seint, Breiner, Ari, Ebadi, Hamid, Bril, Vera, Katzberg, Hans D.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 563 KB

english, 2014

2

The decreased expression of thioredoxin-1 in brain of mice with experimental autoimmune myasthenia gravis

Chen, Wenli, Zeng, Xiansi, Luo, Fucheng, Lv, Tao, Zhou, Xiaoshuang, Bai, Jie

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 3.48 MB

english, 2014

3

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease

Menezes, Manoj P., Waddell, Leigh, Lenk, Guy M., Kaur, Simranpreet, MacArthur, Daniel G., Meisler, Miriam H., Clarke, Nigel F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 570 KB

english, 2014

4

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21

Calpena, E., Martínez-Rubio, D., Arpa, J., García-Peñas, J.J., Montaner, D., Dopazo, J., Palau, F., Espinós, C.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 445 KB

english, 2014

5

Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy

Chan, Sophelia H.S., Foley, A. Reghan, Phadke, Rahul, Mathew, Ann Agnes, Pitt, Matthew, Sewry, Caroline, Muntoni, Francesco

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.35 MB

english, 2014

6

Conserved regions of the DMD 3′ UTR regulate translation and mRNA abundance in cultured myotubes

Larsen, C. Aaron, Howard, Michael T.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.14 MB

english, 2014

7

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation

Finsterer, Josef, Brandau, Oliver, Stöllberger, Claudia, Wallefeld, William, Laing, Nigel G., Laccone, Franco

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 361 KB

english, 2014

8

197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission – OPA1 and MFN2 molecular mechanisms and therapeutic strategies

Yu-Wai-Man, Patrick, Carelli, Valerio, Chinnery, Patrick F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 232 KB

english, 2014

9

Biomarkers and surrogate endpoints in Duchenne: Meeting report

Aartsma-Rus, Annemieke, Ferlini, Alessandra, Vroom, Elizabeth

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 281 KB

english, 2014

10

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

Illingworth, M.A., Main, M., Pitt, M., Feng, L., Sewry, C.A., Gunny, R., Vorstman, E., Beeson, D., Manzur, A., Muntoni, F., Robb, S.A.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 879 KB

english, 2014

11

Rhabdomyolysis: Review of the literature

Zutt, R., van der Kooi, A.J., Linthorst, G.E., Wanders, R.J.A., de Visser, M.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 745 KB

english, 2014

12

Book review

Spinty, Stefan, Madhu, Rajesh

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

13

Book review

Jacques, Thomas S.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

14

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 51 KB

english, 2014

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