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Items: 1 to 20 of 54

1.

A case series study on the efficacy of functional surgery associated with early intensive rehabilitation therapy in Charcot-Marie-Tooth Type 1A disease.

Ferraro F, Dusina B, Carantini I, Strambi R, Galante E, Gaiani L.

Eur J Phys Rehabil Med. 2017 Mar 6. doi: 10.23736/S1973-9087.17.04448-3. [Epub ahead of print]

2.

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H.

Clin Genet. 2017 Feb 28. doi: 10.1111/cge.13002. [Epub ahead of print]

PMID:
28244113
3.

Gait in children and adolescents with Charcot-Marie-Tooth disease: a systematic review.

Kennedy RA, Carroll K, McGinley JL.

J Peripher Nerv Syst. 2016 Dec;21(4):317-328. doi: 10.1111/jns.12183. Review.

PMID:
27513454
4.

Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature.

Corrado B, Ciardi G, Bargigli C.

Medicine (Baltimore). 2016 Apr;95(17):e3278. doi: 10.1097/MD.0000000000003278. Review.

5.

Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.

McCorquodale D, Pucillo EM, Johnson NE.

J Multidiscip Healthc. 2016 Jan 19;9:7-19. doi: 10.2147/JMDH.S69979. eCollection 2016. Review.

6.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K.

Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29.

PMID:
25850958
7.

Mitochondrial dynamics and inherited peripheral nerve diseases.

Pareyson D, Saveri P, Sagnelli A, Piscosquito G.

Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Review.

PMID:
25847151
8.

Surgical treatment of cavus foot in Charcot-Marie-tooth disease: a review of twenty-four cases: AAOS exhibit selection.

Faldini C, Traina F, Nanni M, Mazzotti A, Calamelli C, Fabbri D, Pungetti C, Giannini S.

J Bone Joint Surg Am. 2015 Mar 18;97(6):e30. doi: 10.2106/JBJS.N.00794.

PMID:
25788311
9.

Therapeutic options in Charcot-Marie-Tooth diseases.

Mathis S, Magy L, Vallat JM.

Expert Rev Neurother. 2015 Apr;15(4):355-66. doi: 10.1586/14737175.2015.1017471. Epub 2015 Feb 21. Review.

PMID:
25703094
10.

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

Manganelli F, Tozza S, Pisciotta C, Bellone E, Iodice R, Nolano M, Geroldi A, Capponi S, Mandich P, Santoro L.

J Peripher Nerv Syst. 2014 Dec;19(4):292-8. doi: 10.1111/jns.12092.

PMID:
25429913
11.

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.

Kostera-Pruszczyk A, Kosinska J, Pollak A, Stawinski P, Walczak A, Wasilewska K, Potulska-Chromik A, Szczudlik P, Kaminska A, Ploski R.

J Peripher Nerv Syst. 2014 Sep;19(3):242-5. doi: 10.1111/jns.12088.

PMID:
25403865
12.

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.

Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A.

Acta Biochim Pol. 2014;61(4):739-44. Epub 2014 Oct 22.

13.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A.

Neurogenetics. 2015 Jan;16(1):33-42. doi: 10.1007/s10048-014-0422-0. Epub 2014 Sep 18.

14.

Minimally Invasive Early Operative Treatment of Progressive Foot and Ankle Deformity Associated With Charcot-Marie-Tooth Disease.

Boffeli TJ, Tabatt JA.

J Foot Ankle Surg. 2015 Jul-Aug;54(4):701-8. doi: 10.1053/j.jfas.2014.03.019. Epub 2014 Aug 15.

PMID:
25131389
15.

Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review.

Cordeiro JL, Marques W, Hallak JE, Osório FL.

ASN Neuro. 2014 May 27;6(3):185-92. doi: 10.1042/AN20130048. Review.

16.

Neuropathic pain in hereditary peripheral neuropathy.

Jeong NY, Shin YH, Jung J.

J Exerc Rehabil. 2013 Aug 31;9(4):397-9. doi: 10.12965/jer.130057. eCollection 2013. Review.

17.

Hip dysplasia is more severe in Charcot-Marie-Tooth disease than in developmental dysplasia of the hip.

Novais EN, Bixby SD, Rennick J, Carry PM, Kim YJ, Millis MB.

Clin Orthop Relat Res. 2014 Feb;472(2):665-73. doi: 10.1007/s11999-013-3127-z.

18.

Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients.

Krhut J, Mazanec R, Seeman P, Mann-Gow T, Zvara P.

Acta Neurol Scand. 2014 May;129(5):319-24. doi: 10.1111/ane.12176. Epub 2013 Aug 13.

PMID:
23937377
19.

Sleep disorders in Charcot-Marie-Tooth disease type 1.

Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P.

J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):319-25. doi: 10.1136/jnnp-2013-305296. Epub 2013 May 23.

PMID:
23704315
20.

Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease.

Ramdharry GM, Thornhill A, Mein G, Reilly MM, Marsden JF.

Neuromuscul Disord. 2012 Dec;22 Suppl 3:S208-13. doi: 10.1016/j.nmd.2012.10.016.

PMID:
23182641

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