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  • Print publication year: 2014
  • Online publication date: October 2014

Chapter 20 - Neuromuscular weakness

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1. TurnerMR, HardimanO, BenatarM, et al. (2013). Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol 123: 310–322.
2. SchuleR, ScholsL (2011). Genetics of hereditary spastic paraplegias. Semin Neurol 315: 484–493.
3. VlamL, van der PolWL, CatsEA, et al. (2012). Multifocal motor neuropathy: diagnosis, pathogenesis and treatment strategies. Nature Rev Neurol 81: 48–58.
4. SpagnoliC, De SousaC (2012). Brown–Vialetto–Van Laere syndrome and Fazio–Londe disease – treatable motor neuron diseases of childhood. Developmental Med Child Neurol 544: 292–293.
5. BannoH, KatsunoM, SuzukiK, TanakaF, SobueG (2012). Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA). Cell Tissue Res 3491: 313–320.
6. MercuriE, BertiniE, IannacconeST (2012). Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 115: 443–452.
7. RivaN, IannacconeS, CorboM, et al. (2011). Motor nerve biopsy: clinical usefulness and histopathological criteria. Ann Neurol 691: 197–201.
8. VisserJ, van den Berg-VosRM, FranssenH, et al. (2002). Mimic syndromes in sporadic cases of progressive spinal muscular atrophy. Neurology 5811: 1593–1596.
9. DavenportRJ, SwinglerRJ, ChancellorAM, WarlowCP (1996). Avoiding false positive diagnoses of motor neuron disease: lessons from the Scottish Motor Neuron Disease Register. J Neurol Neurosurg Psychiatry 602: 147–151.
10. TraynorBJ, CoddMB, CorrB, et al. (2000.Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: a population-based study. Arch Neurol 578: 1171–1176.
11. RentonAE, MajounieE, WaiteA, et al. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 722: 257–268.
12. Dobson-StoneC, LutyAA, ThompsonEM, et al. (2013). Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis. Acta Neuropathologica 1254: 5235–33.
13. BurnsTM, MauermannML (2011). The evaluation of polyneuropathies. Neurology 767 (suppl 2): S6–13.
14. ChaundryV. Peripheral neuropathy (2008). In: FauciAS, BraunwaldE, KasperDL, HauserS, eds. Harrison’s Principles of Internal Medicine, 17th edn. New York: McGraw-Hill, pp. 2651–2667.
15. EnglandJD (1999). Entrapment neuropathies. Current Opin Neurol 125: 597–602.
16. MyglandA, MonstadP (2001). Chronic polyneuropathies in Vest-Agder, Norway. Eur J Neurology 82: 157–165.
17. ThompsonPD, ThomasPK (2005). Clinical patterns of peripheral neuropathy. In PJ Dyck, PK Thomas, eds. Peripheral Neuropathy. Philadelphia, PA: Elsevier Saunders, pp. 1137–1361.
18. YukiN, HartungHP (2012). Guillain–Barré syndrome. New Engl J Med 36624: 2294–2304.
19. BaiHX, WangZL, TanLM, et al. (2013). The effectiveness of immunomodulating treatment on Miller–Fisher syndrome: a retrospective analysis of 65 Chinese patients. J Peripheral Nerv System 182 :195–196.
20. MurphySM, LauraM, FawcettK, et al. (2012). Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 837: 706–710.
21. EnglandJD, GronsethGS, FranklinG, et al. (2009). Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. Neurology 72: 177–184.
22. SaidG (2002). Indications and usefulness of nerve biopsy. Arch Neurol 5910: 1532–1535.
23. BanwellBL, Gomez, MR (2004). The clinical examination. In EngelAG, Franzini-ArmstrongC., eds. Myology. New York: McGraw-Hill, pp. 599–617.
24. PrasadAN, PrasadC (2003). The floppy infant: contribution of genetic and metabolic disorders. Brain Devel 257: 457–476.
25. MercuriE, MuntoniF (2013). Muscular dystrophies. Lancet 381: 845–860.
26. ErnsteFC, ReedAM (2013). Idiopathic inflammatory myopathies: current trends in pathogenesis, clinical features, and up-to-date treatment recommendations. Mayo Clinic Proceed 881: 83–105.
27. HeatwoleCR, StatlandJM, LogigianEL (2013). The diagnosis and treatment of myotonic disorders. Muscle Nerve 475: 632–648.
28. LandauME, KenneyK, DeusterP, CampbellW (2012).Exertional rhabdomyolysis: a clinical review with a focus on genetic influences. J Clin Neuromusc Dis 133: 122–136.
29. MelliG, ChaudhryV, CornblathDR (2005). Rhabdomyolysis: an evaluation of 475 hospitalized patients. Medicine 846: 377–385.
30. TitulaerMJ, LangB, VerschuurenJJ (2011). Lambert–Eaton myasthenic syndrome: from clinical characteristics to therapeutic strategies. Lancet Neurol 1012: 1098–1107.
31. HehirMK, LogigianEL (2013). Electrodiagnosis of myotonic disorders. Phys Med Rehabil Clinics North Am 241: 209–220.
32. SerratriceG, SerratriceJ (2011). Continuous muscle activity, Morvan’s syndrome and limbic encephalitis: ionic or non ionic disorders?Acta Myologica: Myopath Cardiomyopath 301: 32–33.
33. HadaviS, NoyceAJ, LeslieRD, GiovannoniG (2011). Stiff person syndrome. Practical Neurol 115: 272–282.
34. MillerTM, LayzerRB (2005). Muscle cramps. Muscle Nerve 324: 431–442.
35. ParekhR, CareDA, TainterCR (2012). Rhabdomyolysis: advances in diagnosis and treatment. Emerg Med Pract 143: 1–15.
36. Schulte-MattlerWJ, KleyRA, Rothenfusser-KorberE, et al. (2005). Immune-mediated rippling muscle disease. Neurology 642: 364–367.
37. GazzerroE, SotgiaF, BrunoC, LisantiMP, MinettiC (2010). Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Human Genet 182: 137–145.
38. HermansMC, PintoYM, MerkiesIS, et al. (2010). Hereditary muscular dystrophies and the heart. Neuromusc Disord 208: 479–492.
39. NardesF, AraujoAP, RibeiroMG (2012). Mental retardation in Duchenne muscular dystrophy. Jornal de pediatria 881: 6–16.
40. PfefferG, ChinneryPF (2013). Diagnosis and treatment of mitochondrial myopathies. Annals Med 451: 4–16.
41. LacomisD (2012). Electrodiagnostic approach to the patient with suspected myopathy. Neurologic Clinics 302: 641–660.
42. JoyceNC, OskarssonB, JinLW (2012). Muscle biopsy evaluation in neuromuscular disorders. Phys Med Rehabil Clinics N Am 233: 609–631.
43. BrooksBR, MillerRG, SwashM, MunsatTL, World Federation of Neurology Research Group on Motor Neuron D (2000). El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotrophic Lat Scler Other Motor Neuron Disord 15: 293–299.
44. FilippiM, AgostaF, AbrahamsS, et al. (2010). EFNS guidelines on the use of neuroimaging in the management of motor neuron diseases. Eur J Neurol. 174: 526–e20.
45. TraynorBJ, CoddMB, CorrB, et al. (2000). Amyotrophic lateral sclerosis mimic syndromes: a population-based study. Arch Neurol 571: 109–113.
46. HechtMJ, FellnerF, FellnerC, et al. (2002). Hyperintense and hypointense MRI signals of the precentral gyrus and corticospinal tract in ALS: a follow-up examination including FLAIR images. J Neurological Sci1991–2: 59–65.
47. AgostaF, ValsasinaP, RivaN, et al. (2012). The cortical signature of amyotrophic lateral sclerosis. PLoS One 78: e42816.
48. van der GraaffMM, SageCA, CaanMW, et al. (2011). Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study. Brain 134: 1211–1228.
49. TurnerMR, AgostaF, BedeP, et al. (2012). Neuroimaging in amyotrophic lateral sclerosis. Biomarkers Med 63: 319–337.
50. MenkeRA, AbrahamI, ThielCS, et al. (2012). Fractional anisotropy in the posterior limb of the internal capsule and prognosis in amyotrophic lateral sclerosis. Arch Neurol 6911: 1493–1499.
51. AgostaF, ValsasinaP, AbsintaM, et al. (2011). Sensorimotor functional connectivity changes in amyotrophic lateral sclerosis. Cerebral Cortex 2110: 2291–2298.
52. Joint Task Force of the European Federation of Neurological Societies/Peripheral Nerve Society (2010). Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society – First Revision. J Peripheral Nerv System 151: 1–9.
53. BeydounSR, MuirJ, ApelianRG, GoJL, LinFP (2012). Clinical and imaging findings in three patients with advanced inflammatory demyelinating polyradiculoneuropathy associated with nerve root hypertrophy. J Clin Neuromusc Dis 133: 105–112.
54. TanakaK, MoriN, YokotaY, SuenagaT (2013). MRI of the cervical nerve roots in the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy: a single-institution, retrospective case-control study. BMJ Open 38: e003443.
55. CostaAF, Di PrimioGA, SchweitzerME (2012). Magnetic resonance imaging of muscle disease: a pattern-based approach. Muscle Nerve 464: 465–481.
56. ten DamL, van der KooiAJ, van WattingenM, de HaanRJ, de VisserM (2012). Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology 7916: 1716–1723.
57. MercuriE, ClementsE, OffiahA, et al. (2010). Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Annals Neurol 672: 201–208.
58. MorrowJM, PitceathlyRD, QuinlivanRM, YousryTA (2013). Muscle MRI in Bethlem myopathy. BMJ Case Rep: doi 10.1136/bcr-2013-008596.
59. TascaG, IannacconeE, MonforteM, et al. (2012). Muscle MRI in Becker muscular dystrophy. Neuromusc Disord 22 (suppl 2): S100–106.
60. KleinA, JungbluthH, ClementE, et al. (2011). Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol 689: 1171–1179.
61. Del GrandeF, CarrinoJA, Del GrandeM, MammenAL, Christopher StineL (2011). Magnetic resonance imaging of inflammatory myopathies. Topics Magn Reson Imaging 222: 39–43.
62. Tomasova StudynkovaJ, CharvatF, JarosovaK, VencovskyJ (2007). The role of MRI in the assessment of polymyositis and dermatomyositis. Rheumatology 467: 1174–1179.