Works matching DE "CHARCOT-Marie-Tooth disease"

Results: 1346
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    One gene, many phenotypes: the role of KIF5A in neurodegenerative and neurodevelopmental diseases.

    Published in:
    Cell Communication & Signaling, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12964-025-02277-x
    By:
    • Cozzi, Marta;
    • Tedesco, Barbara;
    • Ferrari, Veronica;
    • Chierichetti, Marta;
    • Pramaggiore, Paola;
    • Cornaggia, Laura;
    • Magdalena, Rocio;
    • Brodnanova, Maria;
    • Mohamed, Ali;
    • Milioto, Carmelo;
    • Piccolella, Margherita;
    • Galbiati, Mariarita;
    • Rusmini, Paola;
    • Crippa, Valeria;
    • Gellera, Cinzia;
    • Magri, Stefania;
    • Taroni, Franco;
    • Cristofani, Riccardo;
    • Poletti, Angelo
    Publication type:
    Article
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    Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).

    Published in:
    Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
    By:
    • Michael Hunter;
    • Rafaëlle Bernard;
    • Elizabeth Freitas;
    • Amandine Boyer;
    • Bharti Morar;
    • Ian J. Martins;
    • Ivailo Tournev;
    • Albena Jordanova;
    • Velina Guergelcheva;
    • Boryana Ishpekova;
    • Ivo Kremensky;
    • Garth Nicholson;
    • Beate Schlotter;
    • Hanns Lochmüller;
    • Thomas Voit;
    • Jaume Colomer;
    • P.K. Thomas;
    • Nicolas Levy;
    • Luba Kalaydjieva
    Publication type:
    Article
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    Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.

    Published in:
    Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
    By:
    • Michael Hunter;
    • Rafaëlle Bernard;
    • Elizabeth Freitas;
    • Amandine Boyer;
    • Bharti Morar;
    • Ian J. Martins;
    • Ivailo Tournev;
    • Albena Jordanova;
    • Velina Guergelcheva;
    • Boryana Ishpekova;
    • Ivo Kremensky;
    • Garth Nicholson;
    • Beate Schlotter;
    • Hanns Lochmüller;
    • Thomas Voit;
    • Jaume Colomer;
    • P.K. Thomas;
    • Nicolas Levy;
    • Luba Kalaydjieva
    Publication type:
    Article
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    HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell‐Based Model of Charcot‐Marie‐Tooth Disease (Type 2D) (Adv. Biology 2/2022).

    Published in:
    Advanced Biology, 2022, v. 6, n. 2, p. 1, doi. 10.1002/adbi.202270021
    By:
    • Smith, Alec S.T.;
    • Kim, Jong Hyun;
    • Chun, Changho;
    • Gharai, Ava;
    • Moon, Hyo Won;
    • Kim, Eun Young;
    • Nam, Soo Hyun;
    • Ha, Nina;
    • Song, Ju Young;
    • Chung, Ki Wha;
    • Doo, Hyun Myung;
    • Hesson, Jennifer;
    • Mathieu, Julie;
    • Bothwell, Mark;
    • Choi, Byung‐Ok;
    • Kim, Deok‐Ho
    Publication type:
    Article
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    GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton.

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03487-6
    By:
    • Wolf, Christina;
    • Pouya, Alireza;
    • Bitar, Sara;
    • Pfeiffer, Annika;
    • Bueno, Diones;
    • Rojas-Charry, Liliana;
    • Arndt, Sabine;
    • Gomez-Zepeda, David;
    • Tenzer, Stefan;
    • Bello, Federica Dal;
    • Vianello, Caterina;
    • Ritz, Sandra;
    • Schwirz, Jonas;
    • Dobrindt, Kristina;
    • Peitz, Michael;
    • Hanschmann, Eva-Maria;
    • Mencke, Pauline;
    • Boussaad, Ibrahim;
    • Silies, Marion;
    • Brüstle, Oliver
    Publication type:
    Article
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    Detection of Copy Number Variation by SNP-Allelotyping.

    Published in:
    Journal of Neurogenetics, 2015, v. 29, n. 1, p. 4, doi. 10.3109/01677063.2014.923884
    By:
    • Parker, Brett;
    • Alexander, Ryan;
    • Wu, Xingyao;
    • Feely, Shawna;
    • Shy, Michael;
    • Schnetz-Boutaud, Nathalie;
    • Li, Jun
    Publication type:
    Article
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    Amyotrophe Lateralsklerose.

    Published in:
    Anaesthesiologie & Intensivmedizin, 2022, v. 63, n. 12, p. 504
    By:
    • Gaik, C.;
    • Wiesmann, T.
    Publication type:
    Article
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    Charcot Foot Diagnosis - Still an Issue?

    Published in:
    Medicina Moderna, 2018, v. 25, n. 3, p. 94
    By:
    • Cocolos, Ion;
    • Neagu, Tiberiu Paul;
    • Ursache, Andrei Tudor;
    • Cristescu, Ioan;
    • Ghemigian, Mircea Vasile;
    • Mirea, Liliana Elena;
    • Popescu, Gheorghe Ion
    Publication type:
    Article
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    Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 607, doi. 10.1002/acn3.51979
    By:
    • Doherty, Carolynne M.;
    • Morrow, Jasper M.;
    • Zuccarino, Riccardo;
    • Howard, Paige;
    • Wastling, Stephen;
    • Pipis, Menelaos;
    • Zafeiropoulos, Nick;
    • Stephens, Katherine J.;
    • Grider, Tiffany;
    • Feely, Shawna M. E.;
    • Nopoulous, Peggy;
    • Skorupinska, Mariola;
    • Milev, Evelin;
    • Nicolaisen, Emma;
    • Dudzeic, Magdalena;
    • McDowell, Amy;
    • Dilek, Nuran;
    • Muntoni, Francesco;
    • Rossor, Alexander M.;
    • Shah, Sachit
    Publication type:
    Article
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    Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 902, doi. 10.1002/acn3.51603
    By:
    • Ando, Masahiro;
    • Higuchi, Yujiro;
    • Yuan, Junhui;
    • Yoshimura, Akiko;
    • Taniguchi, Takaki;
    • Takei, Jun;
    • Takeuchi, Mika;
    • Hiramatsu, Yu;
    • Shimizu, Fumitaka;
    • Kubota, Masaya;
    • Takeshima, Akari;
    • Ueda, Takehiro;
    • Koh, Kishin;
    • Nagaoka, Utako;
    • Tokashiki, Takashi;
    • Sawai, Setsu;
    • Sakiyama, Yusuke;
    • Hashiguchi, Akihiro;
    • Sato, Ryota;
    • Kanda, Takashi
    Publication type:
    Article
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    Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 5, p. 747, doi. 10.1002/acn3.51555
    By:
    • Ando, Masahiro;
    • Higuchi, Yujiro;
    • Yuan, Jun‐Hui;
    • Yoshimura, Akiko;
    • Kitao, Ruriko;
    • Morimoto, Takehiko;
    • Taniguchi, Takaki;
    • Takeuchi, Mika;
    • Takei, Jun;
    • Hiramatsu, Yu;
    • Sakiyama, Yusuke;
    • Hashiguchi, Akihiro;
    • Okamoto, Yuji;
    • Mitsui, Jun;
    • Ishiura, Hiroyuki;
    • Tsuji, Shoji;
    • Takashima, Hiroshi
    Publication type:
    Article
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    Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1158, doi. 10.1002/acn3.51364
    By:
    • Abati, Elena;
    • Magri, Stefania;
    • Meneri, Megi;
    • Manenti, Giulia;
    • Velardo, Daniele;
    • Balistreri, Francesca;
    • Pisciotta, Chiara;
    • Saveri, Paola;
    • Bresolin, Nereo;
    • Comi, Giacomo Pietro;
    • Ronchi, Dario;
    • Pareyson, Davide;
    • Taroni, Franco;
    • Corti, Stefania
    Publication type:
    Article
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    Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 471, doi. 10.1002/acn3.51175
    By:
    • Lafontaine, Maxime;
    • Lia, Anne‐Sophie;
    • Bourthoumieu, Sylvie;
    • Beauvais‐Dzugan, Hélène;
    • Derouault, Paco;
    • Arné‐Bes, Marie‐Christine;
    • Sarret, Catherine;
    • Laffargue, Fanny;
    • Magot, Armelle;
    • Sturtz, Franck;
    • Magy, Laurent;
    • Magdelaine, Corinne
    Publication type:
    Article
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    Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 1962, doi. 10.1002/acn3.51190
    By:
    • Rönkkö, Julius;
    • Molchanova, Svetlana;
    • Revah‐Politi, Anya;
    • Pereira, Elaine M.;
    • Auranen, Mari;
    • Toppila, Jussi;
    • Kvist, Jouni;
    • Ludwig, Anastasia;
    • Neumann, Julika;
    • Bultynck, Geert;
    • Humblet‐Baron, Stéphanie;
    • Liston, Adrian;
    • Paetau, Anders;
    • Rivera, Claudio;
    • Harms, Matthew B.;
    • Tyynismaa, Henna;
    • Ylikallio, Emil
    Publication type:
    Article
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    Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1713, doi. 10.1002/acn3.51145
    By:
    • Cornett, Kayla M. D.;
    • Menezes, Manoj P.;
    • Bray, Paula;
    • Shy, Rosemary R.;
    • Moroni, Isabella;
    • Pagliano, Emanuela;
    • Pareyson, Davide;
    • Estilow, Tim;
    • Yum, Sabrina W.;
    • Bhandari, Trupti;
    • Muntoni, Francesco;
    • Laura, Matilde;
    • Reilly, Mary M.;
    • Finkel, Richard S.;
    • Eichinger, Katy J.;
    • Herrmann, David N.;
    • Shy, Michael E.;
    • Burns, Joshua
    Publication type:
    Article
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    Clinical and biophysical characterization of 19 GJB1 mutations.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 854, doi. 10.1002/acn3.347
    By:
    • Tsai, Pei‐Chien;
    • Yang, De‐Ming;
    • Liao, Yi‐Chu;
    • Chiu, Tai‐Yu;
    • Kuo, Hung‐Chou;
    • Su, Yu‐Ping;
    • Guo, Yuh‐Cherng;
    • Soong, Bing‐Wen;
    • Lin, Kon‐Ping;
    • Liu, Yo‐Tsen;
    • Lee, Yi‐Chung
    Publication type:
    Article
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    A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 2, p. 146, doi. 10.1002/acn3.281
    By:
    • Aerts, Marjolein B.;
    • Weterman, Marian A. J.;
    • Quadri, Marialuisa;
    • Schelhaas, H. Jurgen;
    • Bloem, Bastiaan R.;
    • Esselink, Rianne A.;
    • Baas, Frank;
    • Bonifati, Vincenzo;
    • Warrenburg, Bart P.
    Publication type:
    Article
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