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Arvelige nevropatier

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NMK sin nettside om CMT. www.unn.no/nmk 
Mellgren SI. Arvelige nevropatier. Muskelnytt 2007;2:12-15

  1. Vogt B, Chahin N, Wiszniewski W, Ragole T, Karam C. Screening for genetic mutations in patients with neuropathy without definite etiology is useful. J Neurol. 2020 Sep;267(9):2648-2654. PMID: 32399692. PubMed  
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  4. Rossor AM, Murphy S, Reilly MM.Knee bobbing in Charcot-Marie-Tooth disease.Pract Neurol. 2012 Jun;12(3):182-3.PMID:22661351 PubMed  
  5. Botsford B, Vuong LN, Hedges Iii TR, Mendoza-Santiesteban CE. Characterization of Charcot-Marie-Tooth optic neuropathy. J Neurol. 2017 Dec;264(12):2431-2435. PMID: 29063243 PubMed  
  6. Caress JB1, Lewis JA2, Pinyan CW3, Lawson VH4.. A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia. Muscle Nerve. 2019; Jul;60(1):: 62-66. pmid:30920665 PubMed  
  7. Panosyan FB1, Kirk CA2, Marking D2, Reilly MM3, Scherer SS4, Shy ME5, Herrmann DN1.. Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve. 2017. pmid:28692128 PubMed  
  8. Pisciotta C, Pareyson D. CMT2CC associated with NEFH mutations: a predominantly motor neuronopathy. J Neurol Neurosurg Psychiatry. 2021 Sep 13:jnnp-2021-327438. doi: 10.1136/jnnp-2021-327438. Epub ahead of print. PMID: 34518332. PubMed  
  9. Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype. J Neurol Neurosurg Psychiatry. 2021 Sep 13:jnnp-2021-327186. doi: 10.1136/jnnp-2021-327186. Epub ahead of print. PMID: 34518334. PubMed  
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  12. Akdal G, Koçoğlu K, Tanrıverdizade T, Bora E, Bademkıran F, Yüceyar AN, Ekmekçi Ö, Şengün İŞ, Karasoy H. Vestibular impairment in Charcot-Marie-Tooth disease. J Neurol. 2020 Aug 30. PMID: 32862243. PubMed  
  13. Pisciotta C, Calabrese D, Santoro L, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Cavallaro T, Grandis M, Previtali SC, Allegri I, Padua L, Pazzaglia C, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo MM, Mazzeo A, Trapasso MC, Parazzini F, Vita G, Pareyson D; Italian CMT Network. Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry. Neurology. 2020 Sep 14 PMID: 32928981. PubMed  
  14. Attarian S, Fatehi F, Rajabally YA, Pareyson D. Hereditary neuropathy with liability to pressure palsies. J Neurol. 2020 Aug;267(8):2198-2206. PMID: 30989370.
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  18. Frasquet M, Sevilla T. Hereditary motor neuropathies. Curr Opin Neurol. 2022 Oct 1;35(5):562-570. doi: 10.1097/WCO.0000000000001087. Epub 2022 Aug 8. PMID: 35942667 PubMed  
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  39. Alderson J1, Ghosh PS2.. Clinical Reasoning: Pes cavus and neuropathy: Think beyond Charcot-Marie-Tooth disease. Neurology. 2019. pmid:31427497 PubMed  
  40. Carreau C, Benoit C, Ahle G, Cauquil C, Roubertie A, Lenglet T, Cosgrove J, Meunier I, Veauville-Merllié A, Acquaviva-Bourdain C, Nadjar Y. Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies. J Neurol Neurosurg Psychiatry. 2020 Oct 21:jnnp-2020-323304. PMID: 33087424. PubMed  
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Åse Mygland, spesialist nevrologi, professor dr med