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45 Articles

  • 1
Article Title Author(s) Type (Status) Available Online
Mutation spectrum and phenotypic manifestation in FSHD Greek patients

DOI: 10.1016/j.nmd.2011.11.001

P. Sakellariou, K. Kekou, H. Fryssira, C. Sofocleous, P. Manta, A. Panousopoulou, K. Gounaris, E. Kanavakis et al. Full-length article
(In Press Corrected Proof)
22 February 2012
A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations

DOI: 10.1016/j.nmd.2011.10.017

P. McKelvie, R. Marotta, D.R. Thorburn, J. Chin, S. Punchihewa, S. Collins et al. Short communication
(In Press Corrected Proof)
22 February 2012
Sun, Surf and Science

DOI: 10.1016/j.nmd.2012.01.007

Jane Miller, Susan Brown Conference
(In Press Corrected Proof)
17 February 2012
Experimental validation of in silico predicted KCNA1, KCNA2, KCNA6 and KCNQ2 genes for association studies of peripheral nerve hyperexcitability syndrome in Jack Russell Terriers

DOI: 10.1016/j.nmd.2012.01.008

Mario Van Poucke, An E. Vanhaesebrouck, Luc J. Peelman, Luc Van Ham Full-length article
(In Press Corrected Proof)
16 February 2012
Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report

DOI: 10.1016/j.nmd.2012.01.002

Adele D’Amico, Enrico Bertini, Flaviana Bianco, Patrizia Papacci, Leslie Jacobson, Angela Vincent, Eugenio Mercuri et al. Short communication
(In Press Corrected Proof)
10 February 2012
Paroxysmal neuromyotonia: A new sporadic channelopathy

DOI: 10.1016/j.nmd.2012.01.004

Teeratorn Pulkes, Charungthai Dejthevaporn, Metha Apiwattanakul, Chutima Papsing, Michael G. Hanna et al. Short communication
(In Press Corrected Proof)
06 February 2012
Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy

DOI: 10.1016/j.nmd.2011.12.007

Young-Eun Park, Hyang-Sook Kim, Chang-Hoon Lee, Tai-Seung Nam, Young-Chul Choi, Dae-Seong Kim et al. Short communication
(In Press Corrected Proof)
01 February 2012
Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains

DOI: 10.1016/j.nmd.2011.10.011

Maaike van Putten, Darshan Kumar, Margriet Hulsker, Willem M.H. Hoogaars, Jaap J. Plomp, Annemarieke van Opstal, Maarten van Iterson, Peter Admiraal, Gert-Jan B. van Ommen, Peter A.C. ‘t Hoen, Annemieke Aartsma-Rus et al. Full-length article
(In Press Corrected Proof)
30 January 2012
Cerebral and muscle MRI abnormalities in myotonic dystrophy

DOI: 10.1016/j.nmd.2012.01.003

Daniel T. Franc, Ryan L. Muetzel, Paul R. Robinson, Craig P. Rodriguez, Joline C. Dalton, Cameron E. Naughton, Bryon A. Mueller, Jeffrey R. Wozniak, Kelvin O. Lim, John W. Day et al. Full-length article
(In Press Corrected Proof)
30 January 2012
When tubules aggregate

DOI: 10.1016/j.nmd.2011.12.006

Hans H. Goebel Discussion
(In Press Corrected Proof)
27 January 2012
Cortical heterotopia in LGMD2I

DOI: 10.1016/j.nmd.2011.11.005

Dimitri Renard, Carla Fernandez, Celine Bouchet-Seraphin, Pierre Labauge Short communication
(In Press Corrected Proof)
24 January 2012
Cardiac dysfunction and pathology in the dystrophin and utrophin-deficient mouse during development of dilated cardiomyopathy

DOI: 10.1016/j.nmd.2011.07.003

Ju Lan Chun, Robert O’Brien, Suzanne E. Berry Full-length article
(In Press Corrected Proof)
24 January 2012
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy

DOI: 10.1016/j.nmd.2011.12.005

Juliana Gurgel-Giannetti, Edmar Zanoteli, Eralda Luiza de Castro Concentino, Osorio Abath Neto, João Bosco Pesquero, Umbertina Conti Reed, Mariz Vainzof et al. Short communication
(In Press Corrected Proof)
24 January 2012
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy

DOI: 10.1016/j.nmd.2011.11.006

Young-Min Lim, InSong Koh, Young-Mi Park, Jae-Jung Kim, Dae-Seong Kim, Hyo-Jin Kim, Kyu-Heum Baik, Hye-Yeon Choi, Gap-Seok Yang, Eva Also-Rallo, Eduardo F. Tizzano, Josep Gamez, Kiejung Park, Han-Wook Yoo, Jong-Keuk Lee, Kwang-Kuk Kim et al. Full-length article
(In Press Corrected Proof)
20 January 2012
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “double trouble” overlapping syndromes

DOI: 10.1016/j.nmd.2011.12.001

Giulia Ricci, Isabella Scionti, Greta Alì, Leda Volpi, Virna Zampa, Marina Fanin, Corrado Angelini, Luisa Politano, Rossella Tupler, Gabriele Siciliano et al. Full-length article
(In Press Corrected Proof)
16 January 2012
182nd ENMC International Workshop: RYR1-related myopathies, 15–17th April 2011, Naarden, The Netherlands

DOI: 10.1016/j.nmd.2011.12.003

Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni Full-length article
(In Press Corrected Proof)
09 January 2012
186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

DOI: 10.1016/j.nmd.2011.12.004

Amina Chaouch, David Beeson, Daniel Hantaï, Hanns Lochmüller Full-length article
(In Press Corrected Proof)
09 January 2012
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging

DOI: 10.1016/j.nmd.2011.10.025

Ingrid E.C. Verhaart, Rianne J.M. van Duijn, Brigit den Adel, Arno A.W. Roest, Jan J.G.M. Verschuuren, Annemieke Aartsma-Rus, Louise van der Weerd et al. Full-length article
(In Press Corrected Proof)
03 January 2012
N-Acetylcysteine treatment of dystrophic mdx mice results in protein thiol modifications and inhibition of exercise induced myofibre necrosis

DOI: 10.1016/j.nmd.2011.11.007

Jessica R. Terrill, Hannah G. Radley-Crabb, Miranda D. Grounds, Peter G. Arthur Full-length article
(In Press Corrected Proof)
29 December 2011
A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris

DOI: 10.1016/j.nmd.2011.10.024

Daniel Zielonka, Karin Jurkat-Rott, Paweł Stachowiak, Anna Bryl, Jerzy T. Marcinkowski, Frank Lehmann-Horn et al. Short communication
(In Press Corrected Proof)
26 December 2011
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

DOI: 10.1016/j.nmd.2011.10.001

Inge D. Wijnberg, Marta Owczarek-Lipska, Roberta Sacchetto, Francesco Mascarello, Francesco Pascoli, Walter Grünberg, Johannes H. van der Kolk, Cord Drögemüller et al. Short communication
(In Press Corrected Proof)
26 December 2011
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

DOI: 10.1016/j.nmd.2011.11.003

Rie S. Tsuburaya, Kazunari Monma, Yasushi Oya, Takahiro Nakayama, Tokiko Fukuda, Hideo Sugie, Yukiko K. Hayashi, Ikuya Nonaka, Ichizo Nishino et al. Short communication
(In Press Corrected Proof)
23 December 2011
Multiple exon skipping strategies to by-pass dystrophin mutations

DOI: 10.1016/j.nmd.2011.10.007

Carl F. Adkin, Penelope L. Meloni, Susan Fletcher, Abbie M. Adams, Francesco Muntoni, Brenda Wong, Steve D. Wilton et al. Full-length article
(In Press Corrected Proof)
19 December 2011
Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands

DOI: 10.1016/j.nmd.2011.09.004

Richard J.L.F. Lemmers, Suzanne O’Shea, George W. Padberg, Peter W. Lunt, Silvère M. van der Maarel et al. Full-length article
(In Press Corrected Proof)
19 December 2011
Focal myositis – A neurogenic phenomenon?

DOI: 10.1016/j.nmd.2011.10.023

Hanne Marie Bøe Lunde, Geir Olve Skeie, Anne K. Bertelsen, Bjørn Karlsen, Hrvoje Miletic, Sigurd Lindal, Nils J. Brautaset, Laurence A. Bindoff et al. Short communication
(In Press Corrected Proof)
12 December 2011
Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?

DOI: 10.1016/j.nmd.2011.10.005

Stefano Schiaffino Short communication
(In Press Corrected Proof)
12 December 2011
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

DOI: 10.1016/j.nmd.2011.11.004

N. Trump, T. Cullup, J.B.G.M. Verheij, A. Manzur, F. Muntoni, S. Abbs, H. Jungbluth et al. Short communication
(In Press Corrected Proof)
12 December 2011
Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy

DOI: 10.1016/j.nmd.2011.10.021

E. Somers, Z. Stencel, T.M. Wishart, T.H. Gillingwater, S.H. Parson et al. Full-length article
(In Press Corrected Proof)
09 December 2011
5th Annual Dysferlin Conference 11–14 July 2011, Chicago, Illinois, USA

DOI: 10.1016/j.nmd.2011.10.014

Douglas E. Albrecht, Laura E. Rufibach, Bradley A. Williams, Nilah Monnier, Esther Hwang, Plavi Mittal et al. Full-length article
(In Press Corrected Proof)
09 December 2011
Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy

DOI: 10.1016/j.nmd.2011.10.018

Chien-Hua Wang, Mana Leung, Wen-Chen Liang, Tysh-Jyi Hsieh, Tai-Heng Chen, Yuh-Jyh Jong et al. Full-length article
(In Press Corrected Proof)
09 December 2011
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

DOI: 10.1016/j.nmd.2011.10.019

Karim Wahbi, Anthony Béhin, Philippe Charron, Murielle Dunand, Pascale Richard, Christophe Meune, Patrick Vicart, Pascal Laforêt, Tanya Stojkovic, Henri Marc Bécane, Thierry Kuntzer, Denis Duboc et al. Full-length article
(In Press Corrected Proof)
07 December 2011
Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1

DOI: 10.1016/j.nmd.2011.08.010

Alessandro Pincherle, Vincenzo Patruno, Paola Raimondi, Sabrina Moretti, Ambra Dominese, Filippo Martinelli-Boneschi, Maria Barbara Pasanisi, Eleonora Canioni, Franco Salerno, Francesco Deleo, Roberto Spreafico, Renato Mantegazza, Flavio Villani, Lucia Morandi et al. Full-length article
(In Press Corrected Proof)
05 December 2011
Quantitative muscle ultrasound is a promising longitudinal follow-up tool in Duchenne muscular dystrophy

DOI: 10.1016/j.nmd.2011.10.020

Merel Jansen, Nens van Alfen, Maria W.G. Nijhuis van der Sanden, Johannes P. van Dijk, Sigrid Pillen, Imelda J.M. de Groot et al. Full-length article
(In Press Corrected Proof)
02 December 2011
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

DOI: 10.1016/j.nmd.2011.10.022

Olimpia Musumeci, Claudio Bruno, Tiziana Mongini, Carmelo Rodolico, M’hammed Aguennouz, Emanuele Barca, Angela Amati, Denise Cassandrini, Luigi Serlenga, Giuseppe Vita, Antonio Toscano et al. Full-length article
(In Press Corrected Proof)
02 December 2011
185th ENMC International Workshop: Stem/precursor cells as a therapeutic strategy for muscular dystrophies 3–5 June 2011, Naarden, The Netherlands

DOI: 10.1016/j.nmd.2011.09.008

Ketan Patel, Jennifer Morgan Full-length article
(In Press Corrected Proof)
30 November 2011
Myasthenic tongue

DOI: 10.1016/j.nmd.2011.10.006

Vasiliki Zouvelou, Michael Rentzos, Panagiotis Toulas, Ioannis Evdokimidis Short communication
(In Press Corrected Proof)
28 November 2011
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy

DOI: 10.1016/j.nmd.2011.10.002

Caroline A. Sewry, Ros C.M. Quinlivan, Waney Squier, Glenn E. Morris, Ian Holt et al. Full-length article
(In Press Corrected Proof)
23 November 2011
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation

DOI: 10.1016/j.nmd.2011.10.010

Carola Hedberg, Christopher Lindberg, Gyöngyvér Máthé, Ali-Reza Moslemi, Anders Oldfors et al. Full-length article
(In Press Corrected Proof)
21 November 2011
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

DOI: 10.1016/j.nmd.2011.10.013

María J. Mazón, Francisco Barros, Pilar De la Peña, Juan F. Quesada, Adela Escudero, Ana M. Cobo, Samuel I. Pascual-Pascual, Eduardo Gutiérrez-Rivas, Encarna Guillén, Javier Arpa, Pilar Eraso, Francisco Portillo, Jesús Molano et al. Full-length article
(In Press Corrected Proof)
17 November 2011
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy

DOI: 10.1016/j.nmd.2011.09.006

Sabine Rudnik-Schöneborn, Larissa Arning, Jörg T. Epplen, Klaus Zerres Short communication
(In Press Corrected Proof)
16 November 2011
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

DOI: 10.1016/j.nmd.2011.09.002

I. Wargon, P. Richard, T. Kuntzer, D. Sternberg, S. Nafissi, K. Gaudon, A. Lebail, S. Bauche, D. Hantaï, E. Fournier, B. Eymard, T. Stojkovic et al. Full-length article
(In Press Corrected Proof)
16 November 2011
Three cases of myasthenia gravis from one family with variations in clinical features and serum antibodies

DOI: 10.1016/j.nmd.2011.10.004

Yuping Chen, Wei Wang, Dongning Wei, Li Yang Short communication
(In Press Corrected Proof)
15 November 2011
Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy

DOI: 10.1016/j.nmd.2011.10.012

Hansjörg Rindt, Desire M. Buckley, Spencer M. Vale, Megan Krogman, Ferrill F. Rose, Michael L. Garcia, Christian L. Lorson et al. Full-length article
(In Press Corrected Proof)
14 November 2011
A critical Smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology

DOI: 10.1016/j.nmd.2011.09.007

Mélissa Bowerman, Lyndsay M. Murray, Ariane Beauvais, Bruno Pinheiro, Rashmi Kothary et al. Full-length article
(In Press Corrected Proof)
09 November 2011
Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement

DOI: 10.1016/j.nmd.2011.09.005

Christophe Meune, Lara Khouzami, Karim Wahbi, Philippe Caramelle, Valérie Decostre, Gisèle Bonne, Françoise Pecker et al. Full-length article
(In Press Corrected Proof)
09 November 2011
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