Volume 25; Issue 1

Main
Neuromuscular Disorders
Volume 25; Issue 1

Neuromuscular Disorders

Volume 25; Issue 1

1

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family

Baranello, Giovanni, Saredi, Simona, Sansanelli, Serena, Savadori, Paolo, Canioni, Eleonora, Chiapparini, Luisa, Balestri, Paolo, Malandrini, Alessandro, Arnoldi, Maria Teresa, Pantaleoni, Chiara, Mor

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.16 MB

english, 2015

2

European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene

Haas, Manuel, Vlcek, Viktor, Balabanov, Pavel, Salmonson, Tomas, Bakchine, Serge, Markey, Greg, Weise, Martina, Schlosser-Weber, Gabriele, Brohmann, Henning, Yerro, Concepcion Prieto, Mendizabal, Maca

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 985 KB

english, 2015

3

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

Lynn, Stephen, Aartsma-Rus, Annemieke, Bushby, Kate, Furlong, Pat, Goemans, Nathalie, De Luca, Annamaria, Mayhew, Anna, McDonald, Craig, Mercuri, Eugenio, Muntoni, Francesco, Pohlschmidt, Marita, Vers

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

4

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Meilleur, Katherine G., Jain, Minal S., Hynan, Linda S., Shieh, Ching-Yi, Kim, Eunice, Waite, Melissa, McGuire, Michelle, Fiorini, Courtney, Glanzman, Allan M., Main, Marion, Rose, Kristy, Duong, Tina

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 436 KB

english, 2015

5

Commentary from the Editor

Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 349 KB

english, 2015

6

Efficacy of intravenous immunoglobulin for treatment of Lambert–Eaton myasthenic syndrome without anti-presynaptic P/Q-type voltage-gated calcium channel antibodies: A case report

Okada, Akinori, Koike, Haruki, Nakamura, Tomohiko, Motomura, Masakatu, Sobue, Gen

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 474 KB

english, 2015

7

Becoming a back-up carer: Parenting sons with Duchenne muscular dystrophy transitioning into adulthood

Yamaguchi, Miku, Suzuki, Machiko

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 587 KB

english, 2015

8

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

De Sanctis, Roberto, Pane, Marika, Sivo, Serena, Ricotti, Valeria, Baranello, Giovanni, Frosini, Silvia, Mazzone, Elena, Bianco, Flaviana, Fanelli, Lavinia, Main, Marion, Corlatti, Alice, D'Amico, Ade

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 851 KB

english, 2015

9

Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits

Azuma, Yoshiteru, Nakata, Tomohiko, Tanaka, Motoki, Shen, Xin-Ming, Ito, Mikako, Iwata, Satoshi, Okuno, Tatsuya, Nomura, Yoshiko, Ando, Naoki, Ishigaki, Keiko, Ohkawara, Bisei, Masuda, Akio, Natsume,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.65 MB

english, 2015

10

Book review

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 281 KB

english, 2015

11

Implantation of a left ventricular assist device as a destination therapy in Duchenne muscular dystrophy patients with end stage cardiac failure: Management and lessons learned

Iodice, Francesca, Testa, Giuseppina, Averardi, Marco, Brancaccio, Gianluca, Amodeo, Antonio, Cogo, Paola

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 645 KB

english, 2015

12

Internalized capillaries in skeletal muscle biopsy

Hawlik, Andreas, Wassner, Anette, Ludolph, Albert C., Lewerenz, Jan, Rosenbohm, Angela

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 937 KB

english, 2015

13

A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients

Humphrey, Emma L., Lacey, Erica, Le, Lam T., Feng, Lucy, Sciandra, Francesca, Morris, Charlotte R., Hewitt, Jane E., Holt, Ian, Brancaccio, Andrea, Barresi, Rita, Sewry, Caroline A., Brown, Susan C.,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 3.16 MB

english, 2015

14

Myotonic discharges discriminate chloride from sodium muscle channelopathies

Drost, Gea, Stunnenberg, Bas C., Trip, Jeroen, Borm, George, McGill, Kevin C., Ginjaar, Ieke H.B., van der Kooi, Arendina W., Zwarts, Machiel J., van Engelen, Baziel G.M., Faber, Catharina G., Stegema

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 726 KB

english, 2015

15

Assessment of ventricular function in mouse models of muscular dystrophy: A comparison of MRI with conductance catheter

Blain, Alison M., Greally, Elizabeth, Laval, Steven H., Blamire, Andrew M., MacGowan, Guy A., Straub, Volker W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.25 MB

english, 2015

16

Book review

Scott, Kirsten M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 282 KB

english, 2015

17

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 63 KB

english, 2015

18

A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease

Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R., Baty, Karen, Blakely, Emma L., Zierz, Stephan, Taylor, Robert W., Deschauer, Marcus

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

19

Yukio Fukuyama, MD (1928–2014)

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 450 KB

english, 2015

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски