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Article Title |
Author(s) |
Type (Status) |
Available Online |
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Response
DOI: 10.1016/j.nmd.2012.04.006
The interesting letter by Spadafora and coworkers questions the pathogenic role of the heterozygous CAV3 T78M variant in a patient we have recently described , because they found the same heterozygous...
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Giulia Ricci,
Isabella Scionti,
Rossella Tupler,
Gabriele Siciliano
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Correspondence
(In Press Corrected Proof)
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25 May 2012 |
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CAV3 T78M mutation as polymorphic variant in South Italy
DOI: 10.1016/j.nmd.2012.03.007
We read with interest the manuscript by Ricci et al. about a patient with an overlapping muscular syndrome due to a heterozygous CAV3 T78M mutation and a partial D4Z4 mutation . Although caveolinopath...
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Patrizia Spadafora,
Maria Liguori,
Virginia Andreoli,
Aldo Quattrone,
Antonio Gambardella
et al.
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Correspondence
(In Press Corrected Proof)
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18 May 2012 |
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Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency
DOI: 10.1016/j.nmd.2012.02.003
Abstract: Adult-onset acid maltase deficiency is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency. We present a case of a 53-year-old woman who...
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Lyell K. Jones,
Teerin Liewluck,
Ralitza H. Gavrilova
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Short communication
(In Press Corrected Proof)
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18 May 2012 |
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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
Abstract: Missense mutations in the small heat shock protein HSPB8 cause distal hereditary motor neuropathy (dHMN) and axonal Charcot-Marie-Tooth disease (CMT2L). We previously demonstrated that, desp...
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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.
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Full-length article
(In Press Corrected Proof)
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17 May 2012 |
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Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice
DOI: 10.1016/j.nmd.2012.03.009
Abstract: Over 20years ago single clonal deletions were the first mitochondrial DNA (mtDNA) genetic defects described in association with human disease. Since then very large numbers of children and a...
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R.D.S. Pitceathly,
S. Rahman,
M.G. Hanna
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Review article
(In Press Corrected Proof)
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11 May 2012 |
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Myogenesis in dysferlin-deficient myoblasts is inhibited by an intrinsic inflammatory response
DOI: 10.1016/j.nmd.2012.03.002
Abstract: Limb-girdle muscular dystrophy type 2B results from mutations in dysferlin, a membrane-associated protein involved in cellular membrane repair. Primary myoblast cultures derived from dysferl...
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Tatiana V. Cohen,
Jonathan E. Cohen,
Terence A. Partridge
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Full-length article
(In Press Corrected Proof)
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07 May 2012 |
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Congenital myopathy caused by a novel missense mutation in the CFL2 gene
DOI: 10.1016/j.nmd.2012.03.008
Abstract: Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a consanguineous Iraqi Kurdish family with predomin...
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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.
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Full-length article
(In Press Corrected Proof)
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07 May 2012 |
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Inclusion body myositis coexisting with hypertrophic cardiomyopathy: An autopsy study
DOI: 10.1016/j.nmd.2012.03.011
Abstract: Inclusion body myositis is an inflammatory myopathy characterized pathologically by rimmed vacuoles and the accumulation of amyloid-related proteins. Autopsy studies in these patients, inclu...
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Yukie Inamori,
Itsuro Higuchi,
Teruhiko Inoue,
Yusuke Sakiyama,
Akihiro Hashiguchi,
Keiko Higashi,
Tadafumi Shiraishi,
Ryuichi Okubo,
Kimiyoshi Arimura,
Yoshio Mitsuyama,
Hiroshi Takashima
et al.
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Full-length article
(In Press Corrected Proof)
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07 May 2012 |
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A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
DOI: 10.1016/j.nmd.2012.04.001
Abstract: Either dominantly inherited mutations in MFN2 encoding mitofusin 2 or GDAP1 encoding ganglioside-induced differentiation associated protein 1 may be associated with mild neuropathy. The prob...
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Anne Vital,
Philippe Latour,
Guilhem Sole,
Xavier Ferrer,
Marie Rouanet,
François Tison,
Claude Vital,
Cyril Goizet
et al.
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Full-length article
(In Press Corrected Proof)
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30 April 2012 |
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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
Abstract: Charcot–Marie–Tooth neuropathies (CMT) are a group of clinically and genetically heterogeneous disorders of the peripheral nervous system. Selection of candidate disease genes for mutation a...
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Dana Šafka Brožková,
Soňa Nevšímalová,
Radim Mazanec,
Bernd Rautenstrauss,
Pavel Seeman
et al.
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Full-length article
(In Press Corrected Proof)
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30 April 2012 |
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New phenotype and pathology features in MYH7-related distal myopathy
DOI: 10.1016/j.nmd.2012.03.003
Abstract: Laing distal myopathy is an autosomal dominant disease due to mutations in the gene encoding for the human slow-β myosin heavy chain, MYH7. Most reports describe it as a mild, early onset my...
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Giorgio Tasca,
Enzo Ricci,
Sini Penttilä,
Mauro Monforte,
Vincenzo Giglio,
Pierfrancesco Ottaviani,
Giovanni Camastra,
Gabriella Silvestri,
Bjarne Udd
et al.
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Full-length article
(In Press Corrected Proof)
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23 April 2012 |
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Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2
DOI: 10.1016/j.nmd.2012.03.004
Abstract: The pathogenesis of myotonic dystrophy type 2 includes the sequestration of MBNL proteins by expanded CCUG transcripts, which leads to an abnormal splicing of their target pre-mRNAs. We have...
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Z. Lukáš,
M. Falk,
J. Feit,
O. Souček,
I. Falková,
L. Štefančíková,
E. Janoušová,
L. Fajkusová,
J. Zaorálková,
R. Hrabálková
et al.
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Full-length article
(In Press Corrected Proof)
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23 April 2012 |
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Ultrasonography of MADSAM neuropathy: Focal nerve enlargements at sites of existing and resolved conduction blocks
DOI: 10.1016/j.nmd.2012.03.005
Abstract: Using the emerging technique of peripheral nerve ultrasonography, multiple focal nerve swellings corresponding to sites of existing conduction blocks have been described in demyelinating pol...
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Erika Scheidl,
Josef Böhm,
Magdolna Simó,
Csilla Rózsa,
Benjamin Bereznai,
Tibor Kovács,
Zsuzsanna Arányi
et al.
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Short communication
(In Press Corrected Proof)
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18 April 2012 |
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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
Abstract: Although neuromuscular clinical features often dominate the clinical presentation of mitochondrial disease due to the m.3243A>G mitochondrial DNA (mtDNA) mutation, many patients develop c...
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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.
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Short communication
(In Press Corrected Proof)
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18 April 2012 |
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MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle
DOI: 10.1016/j.nmd.2012.03.006
Abstract: Disorders of mitochondrial DNA (mtDNA) maintenance are clinically and genetically heterogeneous, embracing recessive mtDNA depletion syndromes affecting children and adult-onset multiple mtD...
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Emma L. Blakely,
Anna Butterworth,
Robert D.M. Hadden,
Istvan Bodi,
Langping He,
Robert McFarland,
Robert W. Taylor
et al.
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Full-length article
(In Press Corrected Proof)
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16 April 2012 |
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X inactivation in females with X-linked Charcot–Marie–Tooth disease
DOI: 10.1016/j.nmd.2012.02.009
Abstract: X-linked Charcot–Marie–Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe pheno...
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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.
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Full-length article
(In Press Corrected Proof)
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09 April 2012 |
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Hand weakness in Charcot-Marie-Tooth disease 1X
DOI: 10.1016/j.nmd.2012.02.008
Abstract: There have been suggestions from previous studies that patients with Charcot–Marie–Tooth disease (CMT) have weaker dominant hand muscles. Since all studies to date have included a heterogene...
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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.
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Full-length article
(In Press Corrected Proof)
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30 March 2012 |
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Dystroglycan and dystroglycanopathies: Report of the 187th ENMC Workshop 11–13 November 2011, Naarden, The Netherlands
DOI: 10.1016/j.nmd.2012.02.006
The 187th ENMC Workshop on dystroglycan and dystroglycanopathies in Naarden from 11th to 13th November 2011, brought together 20 researchers from seven different countries (Germany, Italy, The Netherl...
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Susan C. Brown,
Steve J. Winder
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Full-length article
(In Press Corrected Proof)
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21 March 2012 |
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Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 – The patients’ perspective
DOI: 10.1016/j.nmd.2012.02.005
Abstract: Excessive daytime sleepiness (EDS), of very similar pattern to that seen in narcolepsy syndrome, is extremely common in myotonic dystrophy type 1 (DM1). In a significant minority it has a pr...
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D. Hilton-Jones,
M. Bowler,
H. Lochmueller,
C. Longman,
R. Petty,
M. Roberts,
M. Rogers,
C. Turner,
D. Wilcox
et al.
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Full-length article
(In Press Corrected Proof)
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19 March 2012 |