| |
Article Title |
Author(s) |
Pages |
|
|
|
Editorial Board
|
|
IFC
|
|
| Review |
| |
Article Title |
Author(s) |
Pages |
|
|
|
Current status of the congenital myasthenic syndromes
21 November 2011
Abstract: Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electr...
|
Andrew G. Engel
|
99-111
|
|
| Research papers |
| |
Article Title |
Author(s) |
Pages |
|
|
|
Clinical features in a series of fast channel congenital myasthenia syndrome
Abstract: Fast channel congenital myasthenic syndromes are rare, but frequently result in severe weakness. We report a case of 12 fast channel patients to highlight clinical features and management di...
|
Jacqueline Palace,
Daniel Lashley,
Stephen Bailey,
Sandeep Jayawant,
Aisling Carr,
John McConville,
Stephanie Robb,
David Beeson
et al.
|
112-117
|
|
|
|
Autoimmune myasthenia gravis, immunotherapy and thymectomy in children
22 September 2011
Abstract: Autoimmune myasthenia gravis is a rare condition in children. Identifying antibodies directed against the acetylcholine receptor is helpful in making the diagnosis. However, seronegative cas...
|
Tyson L. Ware,
Monique M. Ryan,
Andrew J. Kornberg
|
118-121
|
|
|
|
Acetylcholine receptor antibodies in patients with genetic myopathies: Clinical and biological significance
22 September 2011
Abstract: We report two patients with facioscapulohumeral muscular dystrophy (FSHD) presenting with atypical clinical features. Both were found to have antibodies to acetylcholine receptor (AChR-abs) ...
|
Russell J.M. Lane,
Federico Roncaroli,
Peter Charles,
Dennis G. McGonagle,
Richard W. Orrell
et al.
|
122-128
|
|
|
|
Double trouble: Spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient
22 September 2011
Abstract: Autosomal recessive proximal spinal muscular atrophy is caused by deletions in the survival of motor neuron (SMN1) gene, while autoimmune myasthenia gravis is an acquired disorder. An associ...
|
Manu Jokela,
Bjarne Udd,
Markku Päivärinta
|
129-130
|
|
|
|
PTPN22 and myasthenia gravis: Replication in an Italian population and meta-analysis of literature data
26 December 2011
Abstract: Polymorphisms in PTPN22 are associated with many autoimmune diseases; while rs2476601 is supposed to play a major role, other experimental data suggest that rs2488457 may be even more import...
|
Carlo Provenzano,
Roberta Ricciardi,
Flavia Scuderi,
Maria Teresa Maiuri,
Michelangelo Maestri,
Francesca La Carpia,
Antonella Sferrazza,
Mariapaola Marino,
Lucia Leone,
Marco Lucchi,
Alfredo Mussi,
Marcella Zollino,
Amelia Evoli,
Emanuela Bartoccioni
et al.
|
131-138
|
|
|
|
Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
10 November 2011
Abstract: Mutations in COL6A1, COL6A2 and COL6A3 genes result in collagen VI myopathies: Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and intermediate phenotypes. At present, no...
|
J. Kim,
C. Jimenez-Mallebrera,
A.R. Foley,
M. Fernandez-Fuente,
S.C. Brown,
S. Torelli,
L. Feng,
C.A. Sewry,
F. Muntoni
et al.
|
139-148
|
|
|
|
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement
13 January 2012
Abstract: We describe a 22-month-old girl with axial muscle and diaphragmatic weakness as well as motor developmental delay without mental retardation. The striking clinical feature was a dropped head...
|
Ayako Hattori,
Hirofumi Komaki,
Masao Kawatani,
Hiroshi Sakuma,
Yoshiaki Saito,
Eiji Nakagawa,
Kenji Sugai,
Masayuki Sasaki,
Yukiko K. Hayashi,
Ikuya Nonaka,
Ichizo Nishino
et al.
|
149-151
|
|
|
|
Cardiac and muscle imaging findings in a family with X-linked Emery–Dreifuss muscular dystrophy
12 October 2011
Abstract: The following is a report on a large family with 5 males affected by the X-linked recessive form of Emery–Dreifuss muscular dystrophy with mutation in the STA gene. A detailed longitudinal c...
|
Nicola Carboni,
Marco Mura,
Eugenio Mercuri,
Giovanni Marrosu,
Rosa C. Manzi,
Eleonora Cocco,
Vincenzo Nissardi,
Franco Isola,
Anna Mateddu,
Elisabeta Solla,
Maria A. Maioli,
Valentina Oppo,
Rachele Piras,
Stefano Marini,
Carlo Lai,
Luisa Politano,
Maria G. Marrosu
et al.
|
152-158
|
|
|
|
Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase
22 September 2011
Abstract: We report a case of a 37year-old male with multiple acyl-CoA dehydrogenation deficiency (MADD). The patient had suffered from exercise intolerance in his hip and thigh muscles for one year. ...
|
Fuminobu Sugai,
Kousuke Baba,
Keiko Toyooka,
Wen-Chen Liang,
Ichizo Nishino,
Misaki Yamadera,
Hisae Sumi,
Harutoshi Fujimura,
Yoshiro Nishikawa
et al.
|
159-161
|
|
|
|
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia
28 September 2011
Abstract: Muscle glycogen storage disease 0 (GSD0) is caused by glycogen depletion in skeletal and cardiac muscles due to deficiency of glycogen synthase 1 (GYS1), which is encoded by the GYS1 gene. O...
|
Sayuri Sukigara,
Wen-Chen Liang,
Hirofumi Komaki,
Tokiko Fukuda,
Takeshi Miyamoto,
Takashi Saito,
Yoshiaki Saito,
Eiji Nakagawa,
Kenji Sugai,
Yukiko K. Hayashi,
Hideo Sugie,
Masayuki Sasaki,
Ichizo Nishino
et al.
|
162-165
|
|
|
|
A novel MPZ mutation in Charcot–Marie–Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies
Abstract: Charcot–Marie–Tooth type 1B (CMT1B) is a demyelinating neuropathy caused by mutations in the myelin protein zero (MPZ) gene. Here, we describe a patient with CMT1B with focally folded myelin...
|
Madoka Iida,
Haruki Koike,
Tetsuo Ando,
Makoto Sugiura,
Masahiko Yamamoto,
Fumiaki Tanaka,
Gen Sobue
et al.
|
166-169
|
|
|
|
A single 30 min treadmill exercise session is suitable for ‘proof-of concept studies’ in adult mdx mice: A comparison of the early consequences of two different treadmill protocols
22 September 2011
Abstract: The extent of muscle pathology in sedentary adult mdx mice is very low and treadmill exercise is often used to increase myofibre necrosis; however, the early events in dystrophic muscle and ...
|
Hannah Radley-Crabb,
Jessica Terrill,
Thea Shavlakadze,
Joanne Tonkin,
Peter Arthur,
Miranda Grounds
et al.
|
170-182
|
|
| Workshop report |
| |
Article Title |
Author(s) |
Pages |
|
|
|
179th ENMC international workshop: Pregnancy in women with neuromuscular disorders: 5–7 November 2010, Naarden, The Netherlands
22 September 2011
Sixteen doctors and scientists met in Naarden, The Netherlands, from 5 to 7 November 2010 to review current knowledge in the field of pregnancy in women with neuromuscular disease. The group was joine...
|
Fiona Norwood,
Sabine Rudnik-Schöneborn
|
183-190
|
|
| Meeting reports |
| |
Article Title |
Author(s) |
Pages |
|
|
|
The therapeutic misconception, decision making and informed consent: The ethics of trial participation for neuromuscular disorders
22 September 2011
|
Pauline McCormack,
Simon Woods,
Lynn Hagger
|
191-192
|
|
|
|
Current research on SMN protein and treatment strategies for spinal muscular atrophy
22 September 2011
The 7th UK SMA researchers meeting at Lake Vyrnwy Hotel, Oswestry UK in October 2010, was focussed on two main aspects of current SMA research: (1) to understand the normal functions of SMN protein ()...
|
Emma Humphrey,
Heidi R. Fuller,
Glenn E. Morris
|
193-197
|
|
|
|
WMS 2012
|
|
198
|
|
|
|
Course: Update in Neuromuscular Disorders
|
|
I
|
|
|
|
WMS 2012 flyer
|
|
II
|
|
