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19 Articles

  • 1
Article Title Author(s) Type (Status) Available Online
Response

DOI: 10.1016/j.nmd.2012.04.006

Giulia Ricci, Isabella Scionti, Rossella Tupler, Gabriele Siciliano Correspondence
(In Press Corrected Proof)
25 May 2012
CAV3 T78M mutation as polymorphic variant in South Italy

DOI: 10.1016/j.nmd.2012.03.007

Patrizia Spadafora, Maria Liguori, Virginia Andreoli, Aldo Quattrone, Antonio Gambardella et al. Correspondence
(In Press Corrected Proof)
18 May 2012
Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency

DOI: 10.1016/j.nmd.2012.02.003

Lyell K. Jones, Teerin Liewluck, Ralitza H. Gavrilova Short communication
(In Press Corrected Proof)
18 May 2012
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients

DOI: 10.1016/j.nmd.2012.04.005

Joy Irobi, Anne Holmgren, Vicky De Winter, Bob Asselbergh, Jan Gettemans, Dirk Adriaensen, Chantal Ceuterick-de Groote, Rudy Van Coster, Peter De Jonghe, Vincent Timmerman et al. Full-length article
(In Press Corrected Proof)
17 May 2012
Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice

DOI: 10.1016/j.nmd.2012.03.009

R.D.S. Pitceathly, S. Rahman, M.G. Hanna Review article
(In Press Corrected Proof)
11 May 2012
Myogenesis in dysferlin-deficient myoblasts is inhibited by an intrinsic inflammatory response

DOI: 10.1016/j.nmd.2012.03.002

Tatiana V. Cohen, Jonathan E. Cohen, Terence A. Partridge Full-length article
(In Press Corrected Proof)
07 May 2012
Congenital myopathy caused by a novel missense mutation in the CFL2 gene

DOI: 10.1016/j.nmd.2012.03.008

C.W. Ockeloen, H.J. Gilhuis, R. Pfundt, E.J. Kamsteeg, P.B. Agrawal, A.H. Beggs, A. Dara Hama-Amin, A. Diekstra, N.V.A.M. Knoers, M. Lammens, N. van Alfen et al. Full-length article
(In Press Corrected Proof)
07 May 2012
Inclusion body myositis coexisting with hypertrophic cardiomyopathy: An autopsy study

DOI: 10.1016/j.nmd.2012.03.011

Yukie Inamori, Itsuro Higuchi, Teruhiko Inoue, Yusuke Sakiyama, Akihiro Hashiguchi, Keiko Higashi, Tadafumi Shiraishi, Ryuichi Okubo, Kimiyoshi Arimura, Yoshio Mitsuyama, Hiroshi Takashima et al. Full-length article
(In Press Corrected Proof)
07 May 2012
A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

DOI: 10.1016/j.nmd.2012.04.001

Anne Vital, Philippe Latour, Guilhem Sole, Xavier Ferrer, Marie Rouanet, François Tison, Claude Vital, Cyril Goizet et al. Full-length article
(In Press Corrected Proof)
30 April 2012
Charcot–Marie–Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype – Usefulness of human mapping chip linkage analysis in a Czech family

DOI: 10.1016/j.nmd.2012.04.002

Dana Šafka Brožková, Soňa Nevšímalová, Radim Mazanec, Bernd Rautenstrauss, Pavel Seeman et al. Full-length article
(In Press Corrected Proof)
30 April 2012
New phenotype and pathology features in MYH7-related distal myopathy

DOI: 10.1016/j.nmd.2012.03.003

Giorgio Tasca, Enzo Ricci, Sini Penttilä, Mauro Monforte, Vincenzo Giglio, Pierfrancesco Ottaviani, Giovanni Camastra, Gabriella Silvestri, Bjarne Udd et al. Full-length article
(In Press Corrected Proof)
23 April 2012
Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2

DOI: 10.1016/j.nmd.2012.03.004

Z. Lukáš, M. Falk, J. Feit, O. Souček, I. Falková, L. Štefančíková, E. Janoušová, L. Fajkusová, J. Zaorálková, R. Hrabálková et al. Full-length article
(In Press Corrected Proof)
23 April 2012
Ultrasonography of MADSAM neuropathy: Focal nerve enlargements at sites of existing and resolved conduction blocks

DOI: 10.1016/j.nmd.2012.03.005

Erika Scheidl, Josef Böhm, Magdolna Simó, Csilla Rózsa, Benjamin Bereznai, Tibor Kovács, Zsuzsanna Arányi et al. Short communication
(In Press Corrected Proof)
18 April 2012
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

DOI: 10.1016/j.nmd.2012.03.001

Kieren G. Hollingsworth, Grainne S. Gorman, Michael I. Trenell, Robert McFarland, Robert W. Taylor, Douglass M. Turnbull, Guy A. MacGowan, Andrew M. Blamire, Patrick F. Chinnery et al. Short communication
(In Press Corrected Proof)
18 April 2012
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

DOI: 10.1016/j.nmd.2012.03.006

Emma L. Blakely, Anna Butterworth, Robert D.M. Hadden, Istvan Bodi, Langping He, Robert McFarland, Robert W. Taylor et al. Full-length article
(In Press Corrected Proof)
16 April 2012
X inactivation in females with X-linked Charcot–Marie–Tooth disease

DOI: 10.1016/j.nmd.2012.02.009

Sinéad M. Murphy, Richard Ovens, James Polke, Carly E. Siskind, Matilde Laurà, Karen Bull, Gita Ramdharry, Henry Houlden, Raymond P.J. Murphy, Michael E. Shy, Mary M. Reilly et al. Full-length article
(In Press Corrected Proof)
09 April 2012
Hand weakness in Charcot-Marie-Tooth disease 1X

DOI: 10.1016/j.nmd.2012.02.008

P.J. Arthur-Farraj, S.M. Murphy, M. Laura, M.P. Lunn, H. Manji, J. Blake, G. Ramdharry, Z. Fox, M.M. Reilly et al. Full-length article
(In Press Corrected Proof)
30 March 2012
Dystroglycan and dystroglycanopathies: Report of the 187th ENMC Workshop 11–13 November 2011, Naarden, The Netherlands

DOI: 10.1016/j.nmd.2012.02.006

Susan C. Brown, Steve J. Winder Full-length article
(In Press Corrected Proof)
21 March 2012
Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 – The patients’ perspective

DOI: 10.1016/j.nmd.2012.02.005

D. Hilton-Jones, M. Bowler, H. Lochmueller, C. Longman, R. Petty, M. Roberts, M. Rogers, C. Turner, D. Wilcox et al. Full-length article
(In Press Corrected Proof)
19 March 2012
  • 1


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