References
- Martini R, Berciano J, Van Broeckhoven C. 5th Workshop of the European CMT Consortium, 69th ENMC International Workshop: therapeutic approaches in CMT neuropathies and related disorders 23 – 25 April 1999, Soestduinen, The Netherlands. Neuromuscul Disord 2000; 10(1)69–74
- Gabreëls-Festen A A, Bolhuis P A, Hoogendijk J E, Valentijn L J, Eshuis E J, Gabreëls F J. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol (Berl) 1995; 90(6)645–649
- Krajewski K M, Lewis R A, Fuerst D R, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000; 123(7)1516–1527
- Garcia A, Combarros O, Calleja J, Berciano J. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology 1998; 50(4)1061–1067
- Berciano J, Garcia A, Combarros O. Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication. Muscle Nerve 2003; 27(1)34–39
- Birouk N, Gouider R, Le Guern E, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997; 120(5)813–823
- Thomas P K, Marques W, Jr, Davis M B, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997; 120: 465–478
- Vinci P, Perelli S L. Footdrop, foot rotation, and plantarflexor failure in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil 2002; 83(4)513–516
- Holmberg B H. Charcot-Marie-Tooth disease in northern Sweden: an epidemiological and clinical study. Acta Neurol Scand 1993; 87(5)416–422
- Fowler W M, Abresch R T, Koch T R, Brewer M L, Bowden R K, Wanlass R L. Employment profiles in neuromuscular diseases. Am J Phys Med Rehabil 1997; 76(1)26–37
- Pfeiffer G, Wicklein E M, Ratusinski T, Schmitt L, Kunze K. Disability and quality of life in Charcot-Marie-Tooth disease type 1. J Neurol Neurosurg Psychiatry 2001; 70(4)548–550
- MacMillan J C, Harper P S. The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests. Clin Genet 1992; 42(4)161–163
- Teunissen L L, Eurelings M, Notermans N C, Hop J W, van Gijn J. Quality of life in patients with axonal polyneuropathy. J Neurol 2000; 247(3)195–199
- Molenaar D SM, Vermuelen M, de Visser M, de Haan R. Impact of neurologic signs and symptoms on functional status in peripheral neuropathies. Neurology 1999; 52(1)151–156
- Piccininni M, Falsini C, Pizzi A. Quality of life in hereditary neuromuscular diseases. Acta Neurol Scand 2004; 109(2)113–119
- Medical Research Council. Aids to the examination of the peripheral nerve injuries. Her Majesty's Stationery Office, London 1981; 1
- Jacobs H M, Luttik A, Touw-Otten F W, de Melker R A. The sickness impact profile; results of an evaluation study of the Dutch version. Ned Tijdschr Geneeskd 1990; 134(40)1950–1954
- Bergner M, Bobbitt R A, Carter W B, Gilson B S. The Sickness Impact Profile: development and final revision of a health status measure. Med Care 1981; 19(8)787–805
- van der Werf S P, Prins J B, Vercoulen J H, van der Meer J W, Bleijenberg G. Identifying physical activity patterns in chronic fatigue syndrome using actigraphic assessment. J Psychosom Res 2000; 49(5)373–379
- Brooks R. EuroQol: the current state of play. Health Policy 1996; 37(1)53–72
- de Boer A GEM, van Lanschot J JB, Stalmeier P FM, et al. Is a single-item visual analogue scale as valid, reliable and responsive as multi-item scales in measuring quality of life. Qual Life Res 2004; 13: 311–320
- Vercoulen J H, Swanink C M, Fennis J F, et al. Dimensional assessment of chronic fatigue syndrome. J Psychosom Res 1994; 38: 383–392
- Vercoulen J H, Alberts M, Bleijenberg G. De checklist individual strength (CIS) [the checklist individual strength]. Gedragstherapie 1999; 32: 131–136
- Servaes P, Verhagen C A, Bleijenberg G. Relations between fatigue, neuropsychological functioning, and physical activity after treatment for breast carcinoma: daily self-report and objective behavior. Cancer 2002; 95(9)2017–2026
- Kalkman J S, Schilling M L, van der Werf S P, Padberg G W, Zwarts M J, van Engelen B GM, Bleijenberg G. Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I patients. J Neurol Neurosurg Psychiatry 2005; 76: 1406–1409