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Editorial Board
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IFC
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| Research papers |
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Paroxysmal neuromyotonia: A new sporadic channelopathy
06 February 2012
Abstract: Neuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting in hyperexcitability of peripheral nerves. We report an unusual case of neuromyotonia, which to our...
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Teeratorn Pulkes,
Charungthai Dejthevaporn,
Metha Apiwattanakul,
Chutima Papsing,
Michael G. Hanna
et al.
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479-482
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Cerebral and muscle MRI abnormalities in myotonic dystrophy
30 January 2012
Abstract: Pathophysiological mechanisms underlying the clinically devastating CNS features of myotonic dystrophy (DM) remain more enigmatic and controversial than do the muscle abnormalities of this c...
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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.
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483-491
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Skeletal muscle involvement in myotonic dystrophy type 2. A comparative muscle ultrasound study
14 March 2012
Abstract: This study determines the presence and extent of muscle changes in 31 myotonic dystrophy type 2 (DM2) patients detected by muscle ultrasound. Results were compared to 31 adult-onset myotonic...
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A.A. Tieleman,
A. Vinke,
N. van Alfen,
J.P. van Dijk,
S. Pillen,
B.G.M. van Engelen
et al.
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492-499
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Normal height and weight in a series of ambulant Duchenne muscular dystrophy patients using the 10 day on/10day off prednisone regimen
05 March 2012
Abstract: Prednisone treatment delays the progressive course of Duchenne muscular dystrophy. The aim of this study was to determine the influence of the 10day on/10day off treatment on height and weig...
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K. ten Dam,
I.J.M. de Groot,
C. Noordam,
N. van Alfen,
J.C.M. Hendriks,
L.T.L. Sie
et al.
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500-504
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Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy
01 February 2012
Abstract: Dysferlinopathy refers to autosomal recessive muscular dystrophies caused by mutations in dysferlin gene (DYSF). It includes two major distinct disorders, Miyoshi myopathy and limb-girdle mu...
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Young-Eun Park,
Hyang-Sook Kim,
Chang-Hoon Lee,
Tai-Seung Nam,
Young-Chul Choi,
Dae-Seong Kim
et al.
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505-510
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Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene
04 April 2012
Abstract: Mutant genes associated with Charcot Marie Tooth type 2, distal hereditary motor neuropathy and familial amyotrophic lateral sclerosis may cause overlapping clinical phenotypes. We performed...
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Rune Østern,
Toril Fagerheim,
Kristin Ørstavik,
Trygve Holmøy,
Arvid Heiberg,
Inger Lund-Petersen,
Tim M. Strom,
Øivind Nilssen,
Arve Dahl
et al.
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511-521
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Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008
05 April 2012
Abstract: The Dubowitz Neuromuscular Centre is the UK National Commissioning Group referral centre for congenital muscular dystrophy (CMD). This retrospective review reports the diagnostic outcome of ...
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E.M. Clement,
L. Feng,
R. Mein,
C.A. Sewry,
S.A. Robb,
A.Y. Manzur,
E. Mercuri,
C. Godfrey,
T. Cullup,
S. Abbs,
F. Muntoni
et al.
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522-527
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Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders
05 March 2012
Abstract: The ease of sniff nasal inspiratory pressure testing may extend application of respiratory muscle assessment to younger and cognitively-impaired children. We sought to quantify sniff nasal i...
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Vincent B. Anderson,
Jennifer A. McKenzie,
Chris Seton,
Dominic A. Fitzgerald,
Richard I. Webster,
Kathryn N. North,
David A. Joffe,
Helen K. Young
et al.
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528-533
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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
16 January 2012
Abstract: We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy. The patient displayed also bilateral win...
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Giulia Ricci,
Isabella Scionti,
Greta Alì,
Leda Volpi,
Virna Zampa,
Marina Fanin,
Corrado Angelini,
Luisa Politano,
Rossella Tupler,
Gabriele Siciliano
et al.
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534-540
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Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy
24 January 2012
Abstract: X-linked myotubular myopathy due to mutations in the MTM1 gene is classically characterized by a severe neonatal phenotype and a typical muscle biopsy presenting globular and centrally locat...
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Juliana Gurgel-Giannetti,
Edmar Zanoteli,
Eralda Luiza de Castro Concentino,
Osorio Abath Neto,
João Bosco Pesquero,
Umbertina Conti Reed,
Mariz Vainzof
et al.
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541-545
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Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: A case report
10 February 2012
Abstract: Fetal acetylcholine receptor inactivation syndrome is a rare condition occurring in newborns of myasthenic mothers, characterized by bulbar and facial weakness after recovery from the genera...
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Adele D’Amico,
Enrico Bertini,
Flaviana Bianco,
Patrizia Papacci,
Leslie Jacobson,
Angela Vincent,
Eugenio Mercuri
et al.
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546-548
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Role of serotonergic system in the pathogenesis of fibrosis in canine idiopathic inflammatory myopathies
09 March 2012
Abstract: Idiopathic inflammatory myopathies are muscle diseases characterized by inflammation, necrosis, and fibrosis. The neurotransmitter serotonin (5-HT) has been shown to promote fibrosis in many...
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Luigi Michele Pavone,
Silvana Rea,
Francesca Trapani,
Valeria De Pasquale,
Simona Tafuri,
Serenella Papparella,
Orlando Paciello
et al.
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549-557
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Experimental validation of in silico predicted KCNA1, KCNA2, KCNA6 and KCNQ2 genes for association studies of peripheral nerve hyperexcitability syndrome in Jack Russell Terriers
16 February 2012
Abstract: KCNA1, KCNA2, KCNA6 and KCNQ2 are associated with peripheral nerve hyperexcitability in humans. In order to determine if these genes are also involved in Jack Russell Terriers with a similar...
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Mario Van Poucke,
An E. Vanhaesebrouck,
Luc J. Peelman,
Luc Van Ham
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558-565
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| Workshop report |
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186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands
09 January 2012
The ENMC hosted a group of 22 participants including parents, clinicians and scientists involved in the care or research of congenital myasthenic syndromes (CMS) patients. These represented different ...
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Amina Chaouch,
David Beeson,
Daniel Hantaï,
Hanns Lochmüller
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566-576
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ENMC Announcement
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IV
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