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Neuropathology and Applied Neurobiology|May 11, 2017
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophyA Vihola, H Luque, M Savarese, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Founder effect in spinal and bulbar muscular atrophy (SBMA) in ScandinaviaA Lund, B Udd, V Juvonen, et al.
Neurology|August 25, 2010
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathyN Muelas, P Hackman, H Luque, et al.
Brain : a Journal of Neurology|August 1, 1996
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patientsP M Andersen, L Forsgren, M Binzer, et al.
Neuromuscular Disorders : NMD|March 17, 2004
New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)R Sallinen, A Vihola, L L Bachinski, et al.
Neurology|October 13, 2004
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvementG Van Goethem, P Luoma, M Rantamäki, et al.
Neurology|June 11, 2003
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2A Vihola, G Bassez, G Meola, et al.
Neuromuscular Disorders : NMD|July 26, 2008
Electron microscopy in myofibrillar myopathies reveals clues to the mutated geneK G Claeys, M Fardeau, R Schröder, et al.
European Journal of Human Genetics : EJHG|July 4, 2001
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the worldA Lund, B Udd, V Juvonen, et al.
Neurology|September 4, 2008
Distinct muscle imaging patterns in myofibrillar myopathiesD Fischer, R A Kley, K Strach, et al.
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