Works matching Charcot-Marie-Tooth disease

Results: 2453

Traduction française de l'échelle Charcot-Marie-Tooth Disease Pediatric Scale.

Published in:

Canadian Journal of Neurological Sciences, 2017, v. 44, n. 6, p. 740, doi. 10.1017/cjn.2016.435

By:

Gagnon, Cynthia;
Massie, Rami;
Tremblay, Marjolaine;
Darcy, Sylvie;
Martel, Mélissa;
Burns, Joshua

Publication type:

Article

Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease.

Published in:

Neurology & Clinical Neuroscience, 2017, v. 5, n. 4, p. 124, doi. 10.1111/ncn3.12126

By:

Ishiura, Hiroyuki;
Mitsui, Jun;
Yoshimura, Jun;
Doi, Koichiro;
Morishita, Shinichi;
Hamada, Masashi;
Goto, Jun;
Tsuji, Shoji

Publication type:

Article

Vocal Cord Paresis and Probable X-Linked Charcot-Marie-Tooth Disease With Novel GJB1 Mutation.

Published in:

International Journal of Neuroscience, 2010, v. 120, n. 11, p. 731, doi. 10.3109/00207454.2010.513461

By:

Li, Qinghua;
Chen, Meiling;
Liu, Kaixiang;
Lin, Xiaohui;
Chui, Deihua

Publication type:

Article

Shortened internodal length of dermal myelinated nerve fibres in Charcot–Marie-Tooth disease type 1A.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 12, p. 3263, doi. 10.1093/brain/awp274

By:

Saporta, Mario A.;
Katona, Istvan;
Lewis, Richard A.;
Masse, Stacey;
Shy, Michael E.;
Li, Jun

Publication type:

Article

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Published in:

Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 172, doi. 10.1111/jns.12217

By:

Hong, Young B.;
Park, Jin‐Mo;
Yu, Jin S.;
Yoo, Da H.;
Nam, Da E.;
Park, Hyung J.;
Lee, Ji‐Su;
Hwang, Sun H.;
Chung, Ki W.;
Choi, Byung‐Ok

Publication type:

Article

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Published in:

Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 191, doi. 10.1111/jns.12228

By:

Ando, Masahiro;
Hashiguchi, Akihiro;
Okamoto, Yuji;
Yoshimura, Akiko;
Hiramatsu, Yu;
Yuan, Junhui;
Higuchi, Yujiro;
Mitsui, Jun;
Ishiura, Hiroyuki;
Umemura, Ayako;
Maruyama, Koichi;
Matsushige, Takeshi;
Morishita, Shinichi;
Nakagawa, Masanori;
Tsuji, Shoji;
Takashima, Hiroshi

Publication type:

Article

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

Published in:

Journal of the Peripheral Nervous System, 2017, v. 22, n. 1, p. 13, doi. 10.1111/jns.12195

By:

Sun, Bo;
Chen, Zhaohui;
Ling, Li;
Yang, Fei;
Huang, Xusheng

Publication type:

Article

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

Published in:

Journal of the Peripheral Nervous System, 2016, v. 21, n. 4, p. 317, doi. 10.1111/jns.12183

By:

Kennedy, Rachel A.;
Carroll, Kate;
McGinley, Jennifer L.

Publication type:

Article

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Published in:

Journal of the Peripheral Nervous System, 2016, v. 21, n. 3, p. 142, doi. 10.1111/jns.12175

By:

Piscosquito, Giuseppe;
Saveri, Paola;
Magri, Stefania;
Ciano, Claudia;
Gandioli, Claudia;
Morbin, Michela;
Bella, Daniela D.;
Moroni, Isabella;
Taroni, Franco;
Pareyson, Davide

Publication type:

Article

Systematic review of exercise for Charcot-Marie-Tooth disease.

Published in:

Journal of the Peripheral Nervous System, 2015, v. 20, n. 4, p. 347, doi. 10.1111/jns.12116

By:

Sman, Amy D.;
Hackett, Daniel;
Fiatarone Singh, Maria;
Fornusek, Ché;
Menezes, Manoj P.;
Burns, Joshua

Publication type:

Article

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

Published in:

Journal of the Peripheral Nervous System, 2014, v. 19, n. 4, p. 292, doi. 10.1111/jns.12092

By:

Manganelli, Fiore;
Tozza, Stefano;
Pisciotta, Chiara;
Bellone, Emilia;
Iodice, Rosa;
Nolano, Maria;
Geroldi, Alessandro;
Capponi, Simona;
Mandich, Paola;
Santoro, Lucio

Publication type:

Article

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Published in:

Journal of the Peripheral Nervous System, 2014, v. 19, n. 2, p. 175, doi. 10.1111/jns5.12062

By:

Park, Hyung J.;
Kim, Hye J.;
Hong, Young B.;
Nam, Soo H.;
Chung, Ki W.;
Choi, Byung‐Ok

Publication type:

Article

Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.

Published in:

Journal of the Peripheral Nervous System, 2013, v. 18, n. 2, p. 113, doi. 10.1111/jns5.12026

By:

Tazir, Meriem;
Bellatache, Mounia;
Nouioua, Sonia;
Vallat, Jean‐Michel

Publication type:

Article

Physical Therapy Interventions for Gait and Balance in Charcot-Marie-Tooth Disease: A Scoping Review.

Published in:

Life (2075-1729), 2025, v. 15, n. 7, p. 1036, doi. 10.3390/life15071036

By:

Tedeschi, Roberto;
Donati, Danilo;
Giorgi, Federica

Publication type:

Article

Case Studies of Transcranial Electrical Motor Evoked Potentials (TCeMEP) on Patients with Charcot-Marie-Tooth Disease during Posterior Spinal Instrumentation and Fusion.

Published in:

Neurodiagnostic Journal, 2015, v. 55, n. 2, p. 97, doi. 10.1080/21646821.2015.1043221

By:

Schmidt, Robert;
Mani, Prasitha;
Weber, Deborah

Publication type:

Article

Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae070

By:

Beijer, Danique;
Marte, Sheila;
Li, Jiaxin C;
Ridder, Willem De;
Chen, Jessie Z;
Tadenev, Abigail L D;
Miers, Kathy E;
Deconinck, Tine;
Macdonell, Richard;
Marques, Wilson;
Jonghe, Peter De;
Pratt, Samia L;
Meyer-Schuman, Rebecca;
Züchner, Stephan;
Antonellis, Anthony;
Burgess, Robert W;
Baets, Jonathan

Publication type:

Article

Transient, Recurrent, White Matter Lesions in X-linked Charcot-Marie-Tooth Disease with Novel Mutation of gap junction protein beta 1 gene in China: a case report.

Published in:

2014

By:

Yuan Zhao;
Yanchen Xie;
Xiaoquan Zhu;
Huigang Wang;
Yao Li;
Jimei Li

Publication type:

Case Study

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.

Published in:

2025

By:

Scherrer, Camille;
Loret, Camille;
Védrenne, Nicolas;
Buckley, Colman;
Lia, Anne-Sophie;
Kermene, Vincent;
Sturtz, Franck;
Favreau, Frédéric;
Rovini, Amandine;
Faye, Pierre-Antoine

Publication type:

Literature Review

Aspects Concerning Physical Therapy's Role in Helping the Patient Suffering From Charcot-Marie-Tooth Disease Recover.

Published in:

Gymnasium: Scientific Journal of Education, Sports & Health, 2020, v. 21, n. 2, p. 51, doi. 10.29081/gsjesh.2020.21.2.03

By:

Neagoe, Ioana Cristina

Publication type:

Article

The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot–Marie–Tooth Disease with the Compromised Status of Vitamin-Dependent Processes.

Published in:

Biology (2079-7737), 2023, v. 12, n. 7, p. 897, doi. 10.3390/biology12070897

By:

Bunik, Victoria

Publication type:

Article

Reliability and sensitivity of radiographic measures of hip dysplasia in childhood Charcot-Marie-Tooth disease.

Published in:

Hip International, 2023, v. 33, n. 2, p. 323, doi. 10.1177/11207000211027591

By:

Dwan, Leanne N;
Gibbons, Paul;
Jamil, Kamal;
Little, David;
Birke, Oliver;
Menezes, Manoj P;
Burns, Joshua

Publication type:

Article

Modafinil Reduces Fatigue in Charcot-Marie-Tooth Disease Type 1A: A Case Series.

Published in:

2006

By:

Carter, Gregory T.;
Han, Jay J.;
Mayadev, Angeli;
Weiss, Michael D.

Publication type:

Case Study

Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study.

Published in:

Brain & Behavior, 2017, v. 7, n. 12, p. n/a, doi. 10.1002/brb3.794

By:

Knak, Kirsten L.;
Andersen, Linda K.;
Vissing, John

Publication type:

Article

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.

Published in:

Case Reports in Neurology, 2021, v. 13, n. 2, p. 422, doi. 10.1159/000515170

By:

Kovale, Sabine;
Terauda, Ruta;
Millere, Elina;
Taurina, Gita;
Murmane, Daiga;
Isakova, Jekaterina;
Kenina, Viktorija;
Gailite, Linda

Publication type:

Article

Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.

Published in:

Acta Neurologica Scandinavica, 2016, v. 134, n. 1, p. 67, doi. 10.1111/ane.12515

By:

Braathen, G. J.;
Høyer, H.;
Busk, Ø. L.;
Tveten, K.;
Skjelbred, C. F.;
Russell, M. B.

Publication type:

Article

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Published in:

Journal of Neurology, 2017, v. 264, n. 8, p. 1655, doi. 10.1007/s00415-017-8474-3

By:

Berciano, José;
García, Antonio;
Gallardo, Elena;
Peeters, Kristien;
Pelayo-Negro, Ana;
Álvarez-Paradelo, Silvia;
Gazulla, José;
Martínez-Tames, Miriam;
Infante, Jon;
Jordanova, Albena

Publication type:

Article

NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

Published in:

Journal of Neurology, 2016, v. 263, n. 2, p. 361, doi. 10.1007/s00415-015-7985-z

By:

Berciano, José;
Peeters, Kristien;
García, Antonio;
López-Alburquerque, Tomás;
Gallardo, Elena;
Hernández-Fabián, Arantxa;
Pelayo-Negro, Ana;
Vriendt, Els;
Infante, Jon;
Jordanova, Albena

Publication type:

Article

NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.

Published in:

Journal of Neurology, 2015, v. 262, n. 5, p. 1289, doi. 10.1007/s00415-015-7709-4

By:

Berciano, José;
García, Antonio;
Peeters, Kristien;
Gallardo, Elena;
Vriendt, Els;
Pelayo-Negro, Ana;
Infante, Jon;
Jordanova, Albena

Publication type:

Article

High intensity power training in middle-aged women with Charcot–Marie–Tooth disease: a case series.

Published in:

International Journal of Therapy & Rehabilitation, 2021, v. 28, n. 6, p. 1, doi. 10.12968/ijtr.2020.0104

By:

Hackett, Daniel;
Roberts-Clarke, Daniel;
Halaki, Mark;
Burns, Joshua;
Singh, Maria Fiatarone;
Fornusek, Che

Publication type:

Article

Balance and falls in people with Charcot-Marie-Tooth disease: A cohort survey.

Published in:

International Journal of Therapy & Rehabilitation, 2018, v. 25, n. 1, p. 6, doi. 10.12968/ijtr.2018.25.1.6

By:

Williams, Shannon;
Singer, Barbara;
Lamont, Phillipa

Publication type:

Article

Understanding medication safety and Charcot-Marie-Tooth disease: a patient perspective.

Published in:

2020

By:

Socha Hernandez, Astrid V.;
Deeks, Louise S.;
Shield, Alison J.

Publication type:

journal article

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family.

Published in:

2015

By:

Martin, Angela M.;
Maradei, Silvia J.;
Velasco, Harvy M.

Publication type:

Case Study

Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease.

Published in:

2016

By:

Chhabra, Avneesh;
Carrino, John A.;
Farahani, Sahar J.;
Thawait, Gaurav K.;
Sumner, Charlotte J.;
Wadhwa, Vibhor;
Chaudhary, Vinay;
Lloyd, Thomas E.

Publication type:

journal article

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 522, doi. 10.1002/mgg3.106

By:

DiVincenzo, Christina;
Elzinga, Christopher D.;
Medeiros, Adam C.;
Karbassi, Izabela;
Jones, Jeremiah R.;
Evans, Matthew C.;
Braastad, Corey D.;
Bishop, Crystal M.;
Jaremko, Malgorzata;
Wang, Zhenyuan;
Liaquat, Khalida;
Hoffman, Carol A.;
York, Michelle D.;
Batish, Sat D.;
Lupski, James R.;
Higgins, Joseph J.

Publication type:

Article

Severe Dry Eye Disease in Charcot-Marie-Tooth Disease: A Comprehensive Case Report.

Published in:

2023

By:

Aldihan, Khalid A.;
AlRashedi, Musa Johaiman;
Helayel, Halah Bin;
AlMutlak, Mohammed;
Hameed, Sami T.

Publication type:

Case Study

The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease: A Transient Disorder of Children and Young Adults.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 3, p. 342, doi. 10.1177/0883073812474343

By:

Al-Mateen, Majeed;
Craig, Alexa Kanwit;
Chance, Phillip F.

Publication type:

Article

Measuring Ankle Instability in Pediatric Charcot-Marie-Tooth Disease.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 11, p. 1456, doi. 10.1177/0883073813488676

By:

Mandarakas, Melissa;
Hiller, Claire E.;
Rose, Kristy J.;
Burns, Joshua

Publication type:

Article

Factors Associated With Foot and Ankle Strength in Healthy Preschool-Age Children and Age-Matched Cases of Charcot-Marie-Tooth Disease Type 1A.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 4, p. 463, doi. 10.1177/0883073809340698

By:

Rose, Kristy J.;
Burns, Joshua;
North, Kathryn N.

Publication type:

Article

Quality of Life in Children With Charcot-Marie-Tooth Disease.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 3, p. 343, doi. 10.1177/0883073809339877

By:

Burns, Joshua;
Ryan, Monique M.;
Ouvrier, Robert A.

Publication type:

Article

Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4.

Published in:

Veterinary Pathology, 2022, v. 59, n. 3, p. 442, doi. 10.1177/03009858221083041

By:

Dittmer, Keren E.;
Neeley, Catherine;
Perrott, Matthew R.;
Reynolds, Edwardo;
Garrick, Dorian J.;
Littlejohn, Mathew D.

Publication type:

Article

Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial.

Published in:

Journal of Physiotherapy (Australian Physiotherapy Association), 2010, v. 56, n. 2, p. 113, doi. 10.1016/S1836-9553(10)70041-2

By:

Rose, Kristy J.;
Raymond, Jacqueline;
Refshauge, Kathryn;
North, Kathryn N.;
Burns, Joshua

Publication type:

Article

MANAGEMENT OF GAIT IMPAIRMENTS IN PEOPLE WITH CHARCOT-MARIE-TOOTH DISEASE: A TREATMENT ALGORITHM.

Published in:

Journal of Rehabilitation Medicine (Stiftelsen Rehabiliteringsinformation), 2021, v. 53, n. 5, p. 1, doi. 10.2340/16501977-2831

By:

NONNEKES, Jorik;
HOFSTAD, Cheriel;
DE GREEF-ROTTEVEEL, Annemieke;
VAN DER WIELEN, Heleen;
VAN GELDER, Janke H.;
PLAASS, Christian;
ALTMANN, Viola;
KRAUSE, Fabian;
KEIJSERS, Noël;
GEURTS, Alexander;
LOUWERENS, Jan Willem K.

Publication type:

Article

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4.

Published in:

Clinical Genetics, 2007, v. 71, n. 4, p. 343, doi. 10.1111/j.1399-0004.2007.00774.x

By:

Claramunt, R.;
Sevilla, T.;
Lupo, V.;
Cuesta, A.;
Millán, J.M.;
Vílchez, J.J.;
Palau, F.;
Espinós, C.

Publication type:

Article

A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00403-3

By:

Neissi, Mostafa;
Mabudi, Hadideh;
Al-Badran, Adnan Issa;
Mohammadi-Asl, Javad;
Al-Badran, Raed Abdulelah

Publication type:

Article

Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot–Marie–Tooth Disease in Consanguineous Pakistani Families.

Published in:

DNA & Cell Biology, 2023, v. 42, n. 11, p. 697, doi. 10.1089/dna.2023.0169

By:

Asif, Muhammad;
Chiou, Chien-Chun;
Hussain, Malik Fiaz;
Hussain, Manzoor;
Sajid, Zureesha;
Gulsher, Muhammad;
Raheem, Afifa;
Khan, Adil;
Nasreen, Nasreen;
Kloczkowski, Andrzej;
Hassan, Mubashir;
Iqbal, Furhan;
Chen, Chien-Chin

Publication type:

Article

Novel mutations in SH3 TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

Published in:

Pediatrics International, 2016, v. 58, n. 11, p. 1252, doi. 10.1111/ped.13152

By:

Ichikawa, Kazushi;
Numasawa, Keita;
Takeshita, Saoko;
Hashiguchi, Akihiro;
Takashima, Hiroshi

Publication type:

Article

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot--Marie--Tooth disease.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1381915

By:

Shchagina, Olga;
Murtazina, Aysylu;
Chausova, Polina;
Orlova, Mariya;
Dadali, Elena;
Kurbatov, Sergei;
Kutsev, Sergey;
Polyakov, Aleksander

Publication type:

Article

Neural cell adhesion molecule 1 is a cellular target engaged plasma biomarker in demyelinating Charcot–Marie–Tooth disease.

Published in:

European Journal of Neurology, 2023, v. 30, n. 6, p. 1745, doi. 10.1111/ene.15763

By:

Kim, Young Hee;
Yoon, Byeol‐A;
Jo, Young Rae;
Nam, Soo Hyun;
Kim, Nam Hee;
Kim, Kyoung Hee;
Kim, Jong Kuk;
Choi, Byung‐Ok;
Park, Hwan Tae

Publication type:

Article

Genetic and phenotypic profile of 112 patients with X‐linked Charcot–Marie–Tooth disease type 1.

Published in:

European Journal of Neurology, 2018, v. 25, n. 12, p. 1454, doi. 10.1111/ene.13750

By:

Yuan, J.‐H.;
Sakiyama, Y.;
Hashiguchi, A.;
Ando, M.;
Okamoto, Y.;
Yoshimura, A.;
Higuchi, Y.;
Takashima, H.

Publication type:

Article

Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.

Published in:

European Journal of Neurology, 2017, v. 24, n. 10, p. 1274, doi. 10.1111/ene.13360

By:

Ando, M.;
Okamoto, Y.;
Yoshimura, A.;
Yuan, J. ‐ H.;
Hiramatsu, Y.;
Higuchi, Y.;
Hashiguchi, A.;
Mitsui, J.;
Ishiura, H.;
Fukumura, S.;
Matsushima, M.;
Ochi, N.;
Tsugawa, J.;
Morishita, S.;
Tsuji, S.;
Takashima, H.

Publication type:

Article