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European Journal of Neurology|April 7, 2020
SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrumG Tasca, S Lattante, G Marangi, et al.Neuromuscular Disorders : NMD|January 13, 2010
Incontinetia pigmenti-related myopathy or unsolved "double trouble"?H B Huttner, G Richter, A Jünemann, et al.Proceedings of the National Academy of Sciences of the United States of America|February 15, 2001
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humansK Ohno, A Tsujino, J M Brengman, et al.Brain : a Journal of Neurology|March 6, 2007
Zaspopathy in a large classic late-onset distal myopathy familyR Griggs, A Vihola, P Hackman, et al.Neurology|April 11, 2001
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate geneH Haravuori, A Vihola, V Straub, et al.Journal of Neurology, Neurosurgery, and Psychiatry|August 17, 2005
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsyP J Lamont, B Udd, F L Mastaglia, et al.European Journal of Neurology|September 18, 2008
EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases: EFNS task force on the use of intravenous immunoglobulin in treatment of neurological diseasesI Elovaara, S Apostolski, P van Doorn, et al.Neurology|December 17, 1998
The first European family with tibial muscular dystrophy outside the Finnish populationJ de Seze, B Udd, H Haravuori, et al.Clinical Genetics|March 15, 2011
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patientsN Muelas, P Hackman, H Luque, et al.Muscle & Nerve|March 1, 2005
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patientsP Hackman, V Juvonen, J Sarparanta, et al.Pageof 7