Neuromuscular Disorders

Titel Veröffentlichungsdatum Sprache Zitate
Learning difficulties in Duchenne muscular dystrophy: characterisation and correlation with genetic mutation1997/09/01English
Abstract1998/05/01English
Advances in SMA research: Review of gene deletions1996/12/01English
Clinical and morphological phenotype of HMSN 1A mosaicism1997/01/01English
Clinical disorders of balance posture and gait1997/03/01English
Book review1998/02/01English
Immune-mediated polyneuropathies1996/03/01English
DNA and RNA studies on spinal muscular atrophies1996/03/01English
Pathogenetic aspects of polymyositis1996/03/01English
Genetics of dominant ataxias1997/09/01English
UPDATE IN NEUROMUSCULAR DISORDERS2001/03/01English
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome2002/01/01English
Muscle CT findings in 33 patients with myotonic muscular dystrophy1996/03/01English
Screening for mutations in charcotmarie-tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP)1996/03/01English
Is the del521T mutation in the gamma-sarcoglycan gene a founder mutation in Mediterranean countries?1997/09/01English
Negative motor phenomena (Advances in neurology, volume 67)1996/05/01English
How is somnolence in myotonic dystrophy related to other aspects of the disorder?1996/03/01English
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene2001/07/01English
Polyneuropathy in 8 glue-sniffers1997/09/01English
Experimental Thyrotoxic myopathy: Radioautography of protien synthesis in skeletal muscle and motor neurons of spinal cord1995/01/01English
Improved adenoviral vectors for gene therapy of Duchenne muscular dystrophy1997/07/01English
Book review1998/02/01English
Merritt's Neurology. Tenth Edition. Edited by Lewis Rowland, 2000, 1024 pages, £62, Lippincott Williams and Wilkins. ISBN 0 683 30474 72002/01/01English
Effect of nusinersen treatment on quality of life and motor function in adult patients with spinal muscular atrophy2024/03/01English
Clinical, neurophysiological and serological clues for the diagnosis of neuromyotonia and distinction from cramp-fasciculation syndrome2023/08/01English
Exploring hand and upper limb function in patients with inclusion body myositis (IBM)2023/08/01English
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels2023/09/01English
A young female case of asymptomatic immune-mediated necrotizing myopathy: a potential diagnostic option of antibody testing for rhabdomyolysis2023/02/01English
Immune-mediated rippling muscle disease: not your usual muscle twitches and ache2023/03/01English
Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD geneEnglish