Works matching Charcot-Marie-Tooth syndrome

Results: 103

Successful tadalafil treatment for erectile dysfunction associated with Charcot–Marie–Tooth syndrome.

Published in:

Sexual & Relationship Therapy, 2006, v. 21, n. 1, p. 87, doi. 10.1080/14681990500368914

By:

Bodansky, H.J.

Publication type:

Article

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Published in:

2018

By:

Nadol Jr., Joseph B.;
Hedley-Whyte, E. Tessa;
Amr, Sami Samir;
O'Malley, Jennifer T.;
Kamakura, Takefumi;
Nadol, Joseph B Jr;
Hedley-Whyte, E Tessa;
Amr, Sami Samir;
O Apos Malley, Jennifer T

Publication type:

journal article

Rare health conditions 55: Charcot-Marie-Tooth disease, Fraser syndrome, malignant atrophic papulosis and Jacob syndrome.

Published in:

British Journal of Healthcare Assistants, 2022, v. 16, n. 2, p. 76, doi. 10.12968/bjha.2022.16.2.76

By:

Barber, Chris

Publication type:

Article

Successful tadalafil treatment for erectile dysfunction associated with Charcot-Marie-Tooth syndrome.

Published in:

2006

By:

Bodansky HJ

Publication type:

Journal Article

Role of Connexin 32 (Cx32) and Hearing Loss In Charcot-Marie-Tooth Syndrome (CMTS).

Published in:

Laryngoscope, 2011, v. 121, n. S5, p. S321, doi. 10.1002/lary.22277

By:

Gibson, Brian D.;
Sollas, Anne;
Mattiace, Linda A.;
Yu, Guopei;
Kim, Ana H.

Publication type:

Article

P0-Deficient Knockout Mice as Tools to Understand Pathomechanisms in Charcot-Marie-Tooth 1B and P0-Related Déjérine-Sottas Syndrome.

Published in:

Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 273, doi. 10.1111/j.1749-6632.1999.tb08589.x

By:

MARTINI, RUDOLF

Publication type:

Article

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-24

By:

Synofzik, Matthis;
Müller vom Hagen, Jennifer;
Haack, Tobias B.;
Wilhelm, Christian;
Lindig, Tobias;
Beck-Wödl, Stefanie;
Nabuurs, Sander B.;
van Kuilenburg, André B. P.;
de Brouwer, Arjan P. M.;
Schöls, Ludger

Publication type:

Article

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

Published in:

2014

By:

Synofzik, Matthis;
Müller Vom Hagen, Jennifer;
Haack, Tobias B;
Wilhelm, Christian;
Lindig, Tobias;
Beck-Wödl, Stefanie;
Nabuurs, Sander B;
van Kuilenburg, André Bp;
de Brouwer, Arjan Pm;
Schöls, Ludger;
van Kuilenburg, André B P;
de Brouwer, Arjan P M

Publication type:

journal article

Charcot-Marie-Tooth Syndrome and Surgical Management for Left Main Coronary Artery Disease.

Published in:

Journal of Cardiac Surgery, 2004, v. 19, n. 3, p. 246, doi. 10.1111/j.0886-0440.2004.04048.x

By:

Erentu&gcaron;, Vedat;
Bozbu&gcaron;a, Nilgün;
Akinci, Esat;
Yakut, Cevat

Publication type:

Article

Functional MRI and laser-evoked potentials evaluation in Charcot-Marie-Tooth syndrome.

Published in:

2018

By:

De Salvo, Simona;
Bonanno, Lilla;
Giorgianni, Roberto;
Muscarà, Nunzio;
Freni, Francesco;
Caminiti, Fabrizia;
Milardi, Demetrio;
Bramanti, Placido;
Marino, Silvia

Publication type:

journal article

A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome.

Published in:

2015

By:

Dello Russo, Claudio;
Padula, Francesco;
Di Giacomo, Gianluca;
Mesoraca, Alvaro;
Gabrielli, Ivan;
Bizzoco, Domenico;
Giorlandino, Claudio

Publication type:

Case Study

Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey.

Published in:

Journal of Neurology, 2010, v. 257, n. 4, p. 646, doi. 10.1007/s00415-009-5390-1

By:

Boentert, Matthias;
Dziewas, Rainer;
Heidbreder, Anna;
Happe, Svenja;
Kleffner, Ilka;
Evers, Stefan;
Young, Peter

Publication type:

Article

A Review of Muscle Relaxants in Anesthesia in Patients with Neuromuscular Disorders Including Guillain-Barré Syndrome, Myasthenia Gravis, Duchenne Muscular Dystrophy, Charcot-Marie-Tooth Disease, and Inflammatory Myopathies.

Published in:

Medical Science Monitor, 2024, v. 30, p. 1, doi. 10.12659/MSM.945675

By:

Radkowski, Paweł;
Oniszczuk, Hubert;
Opolska, Justyna;
Podlińska, Iwona;
Pawluczuk, Mateusz;
Onichimowski, Dariusz

Publication type:

Article

Proximal Charcot-Marie-Tooth Syndrome with Duplication on Chromosome 17p11.2.

Published in:

Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 469, doi. 10.1111/j.1749-6632.1999.tb08613.x

By:

AUER-GRUMBACH, MICHAELA;
WAGNER, KLAUS;
PAYER, FRANZ;
HARTUNG, HANS-PETER

Publication type:

Article

Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease.

Published in:

Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 168, doi. 10.1111/j.1749-6632.1999.tb08580.x

By:

NICHOLSON, S. M.;
RESSOT, C.;
GOMÈS, D.;
D'ANDREA, P.;
PEREA, J.;
DUVAL, N.;
BRUZZONE, R.

Publication type:

Article

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.

Published in:

Molecular Syndromology, 2025, v. 16, n. 1, p. 55, doi. 10.1159/000540207

By:

Kablan, Ahmet;
Erturkmen Aru, Esma

Publication type:

Article

Pitt-Hopkins Syndrome in a Boy With Charcot Marie Tooth Disease Type 1A: A Rare Co-occurrence of 2 Genetic Disorders.

Published in:

2012

By:

Ghosh, Partha S.;
Friedman, Neil R.;
Ghosh, Debabrata

Publication type:

Case Study

Coexistent Central and Peripheral Nervous System Involvement in a Charcot-Marie-Tooth Syndrome X-linked Patient.

Published in:

2010

By:

Fusco, Carlo;
Frattini, Daniele;
Pisani, Francesco;
Spaggiari, Federica;
Ferlini, Alessandra;
Della Giustina, Elvio

Publication type:

Case Study

The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK.

Published in:

Clinical Genetics, 1994, v. 45, n. 3, p. 128, doi. 10.1111/j.1399-0004.1994.tb04009.x

By:

MacMillan, John C.;
Harper, Peter S.

Publication type:

Article

The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 161, doi. 10.1111/j.1399-0004.1992.tb03231.x

By:

MacMillan, John C.;
Harper, Peter S.

Publication type:

Article

Split Hand Syndrome in Charcot–Marie–Tooth Disease Type X1 (CMTX1): A Clinical, Neurophysiological, and Radiological Study.

Published in:

European Journal of Neurology, 2025, v. 32, n. 5, p. 1, doi. 10.1111/ene.70188

By:

Bertini, Alessandro;
Moscatelli, Marco;
Ciano, Claudia;
Verri, Mattia;
Cavalca, Eleonora;
Sconfienza, Luca Maria;
Grisoli, Marina;
Lanteri, Paola;
Pareyson, Davide;
Pisciotta, Chiara;
Manganelli, Fiore;
Fabrizi, Gian Maria;
Schenone, Angelo;
Tozza, Stefano;
Cavallaro, Tiziana;
Taioli, Federica;
Ferrarini, Moreno;
Grandis, Marina;
Bellone, Emilia;
Mandich, Paola

Publication type:

Article

Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.

Published in:

Molecular Neurobiology, 2019, v. 56, n. 9, p. 6095, doi. 10.1007/s12035-019-1471-z

By:

Nian, Fang-Shin;
Li, Lei-Li;
Cheng, Chih-Ya;
Wu, Pei-Chun;
Lin, You-Tai;
Tang, Cheng-Yung;
Ren, Bo-Shiun;
Tai, Chin-Yin;
Fann, Ming-Ji;
Kao, Lung-Sen;
Hong, Chen-Jee;
Tsai, Jin-Wu

Publication type:

Article

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.

Published in:

Acta Neuropathologica, 1994, v. 87, n. 1, p. 91, doi. 10.1007/BF00386259

By:

Thomas, Florian;
Lebo, Roger;
Rosoklija, Gorazd;
Ding, Xin-Sheng;
Lovelace, Robert;
Latov, Norman;
Hays, Arthur

Publication type:

Article

CLINICAL AND ELECTRODIAGNOSTIC FEATURES OF CHARCOT-MARIE-TOOTH SYNDROME.

Published in:

Acta Neurologica Scandinavica, 1978, v. 58, p. 4, doi. 10.1111/j.1600-0404.1978.tb07640.x

By:

Brust, John C. M.;
Lovelace, Robert E.;
Devi, Sarala

Publication type:

Article

Vincristine neurotoxicity in Charcot‐Marie‐Tooth syndrome.

Published in:

Medical Journal of Australia, 1985, v. 143, n. 7, p. 305, doi. 10.5694/j.1326-5377.1985.tb123018.x

By:

Griffiths, James D.;
Stark, Richard J.;
Ding, Jue Chong;
Cooper, Ian A.

Publication type:

Article

Hereditary Ataxias: Epidemiological Aspects.

Published in:

Neuroepidemiology, 1990, v. 9, n. 6, p. 321, doi. 10.1159/000110795

By:

Werdelin, Lene;
Keiding, Niels

Publication type:

Article

Novel exc Genes Involved in Formation of the Tubular Excretory Canals of Caenorhabditis elegans.

Published in:

G3: Genes | Genomes | Genetics, 2019, v. 9, n. 5, p. 1339, doi. 10.1534/g3.119.200626

By:

Al-Hashimi, Hikmat;
Chiarelli, Travis;
Lundquist, Erik A.;
Buechner, Matthew

Publication type:

Article

Telephone Accessibility for Individuals with Dual Sensory Impairments: A Case Study.

Published in:

Journal of Visual Impairment & Blindness, 2012, v. 106, n. 1, p. 43, doi. 10.1177/0145482X1210600106

By:

Evers, Paul;
Barber, Paul;
Wittich, Walter

Publication type:

Article

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.

Published in:

European Journal of Pediatrics, 2008, v. 167, n. 7, p. 723, doi. 10.1007/s00431-008-0740-z

By:

Corbeel, Lucien;
Freson, Kathleen

Publication type:

Article

Charcot--Marie--Tooth neuropathy and Mobitz II heart block.

Published in:

British Journal of Hospital Medicine (17508460), 2015, v. 76, n. 9, p. 545, doi. 10.12968/hmed.2015.76.9.545

By:

Ghonim, Sarah;
Dubrey, Simon W.

Publication type:

Article

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Published in:

International Journal of Audiology, 2013, v. 52, n. 1, p. 23, doi. 10.3109/14992027.2012.736032

By:

Liu, Xue Zhong;
Xie, Dinghua;
Yuan, Hui Jun;
de Brouwer, Arjan P. M.;
Christodoulou, John;
Yan, Denise

Publication type:

Article

A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene.

Published in:

Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 219, doi. 10.1111/jns.12314

By:

Tozza, Stefano;
Pisciotta, Chiara;
Severi, Daniele;
Santoro, Lucio;
Manganelli, Fiore;
Magri, Stefania;
Balistreri, Francesca;
Taroni, Franco;
Pennisi, Elena Maria;
Schirinzi, Erika;
Ricci, Giulia;
Siciliano, Gabriele

Publication type:

Article

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.

Published in:

Journal of the Peripheral Nervous System, 2015, v. 20, n. 4, p. 415, doi. 10.1111/jns.12148

By:

Tufano, Maria;
Cappuccio, Gerarda;
Terrone, Gaetano;
Manganelli, Fiore;
Pisciotta, Chiara;
Geroldi, Alessandro;
Capponi, Simona;
Del Giudice, Ennio

Publication type:

Article

2015 Peripheral Nerve Society Biennial Meeting.

Published in:: Journal of the Peripheral Nervous System, 2015, v. 20, n. 2, p. 88, doi. 10.1111/jns.12129
Publication type:: Article

Neuromuscular Diseases, Genetic Etiology and Next Generation Sequence Analysis.

Published in:

Gazi Medical Journal, 2024, v. 35, p. 38

By:

Somuncu, Makbule Nihan;
Göktaş, Emine;
Zamani, Ayşe Gül;
Yıldırım, Mahmut Selman

Publication type:

Article

Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail.

Published in:

PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0216833

By:

Raasakka, Arne;
Ruskamo, Salla;
Barker, Robert;
Krokengen, Oda C.;
Vatne, Guro H.;
Kristiansen, Cecilie K.;
Hallin, Erik I.;
Skoda, Maximilian W. A.;
Bergmann, Ulrich;
Wacklin-Knecht, Hanna;
Jones, Nykola C.;
Hoffmann, Søren V.;
Kursula, Petri

Publication type:

Article

Loss of FZO1 gene results in changes of cell dynamics in fission yeast.

Published in:

International Journal of Molecular Medicine, 2020, v. 46, n. 6, p. 2194, doi. 10.3892/ijmm.2020.4752

By:

Yuan, Rongmei;
Ding, Xiang;
Tan, Xiumei;
Hou, Yiling

Publication type:

Article

Original Surgical Treatment and Long-term Follow-up for Chronic Inflammatory Demyelinating Polyradiculoneuropathy Causing a Compressive Cervical Myelopathy: Review of the Literature.

Published in:

Neurospine, 2022, v. 19, n. 2, p. 472, doi. 10.14245/ns.2143232.616

By:

Rigal, Julien;
Quarto, Emanuele;
Boue, Lisa;
Balabaud, Laurent;
Thompson, Wendy;
Cloché, Thibault;
Bourret, Stephane;
Le Huec, Jean Charles

Publication type:

Article

An Odd Presentation of Dysphagia Due to Pericardial Effusion.

Published in:

2024

By:

Ipalawatte, Harendra;
Ahl, Ariel;
Takher, Jasprit;
Gower, Arian

Publication type:

Case Study

Phenotypic description of a large kindred with a new c.371_374delAGGG LMNA mutation.

Published in:

Neurology & Clinical Neuroscience, 2020, v. 8, n. 2, p. 109, doi. 10.1111/ncn3.12365

By:

Ferreira, Paulo;
Carvalho, Vanessa;
Martins, João

Publication type:

Article

PHARC Syndrome, a Rare Genetic Disorder—Case Report.

Published in:

Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 977, doi. 10.1002/mdc3.13266

By:

Dias Bastos, Paulo André;
Mendonça, Marcelo;
Lampreia, Tânia;
Magriço, Marta;
Oliveira, Jorge;
Barbosa, Raquel

Publication type:

Article

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

Islands and Neurology: An Exploration into a Unique Association.

Published in:

Neuroscientist, 2025, v. 31, n. 4, p. 336, doi. 10.1177/10738584241257927

By:

Dhar, Debjyoti;
MM, Samim;
Parvin, Naznin;
Dey, Treshita;
Pal, Anantini;
Pal, Pramod Kumar

Publication type:

Article

Pharmacology and drug development in rare diseases: the attractiveness and expertise of the French medical pharmacology.

Published in:

Fundamental & Clinical Pharmacology, 2017, v. 31, n. 6, p. 685, doi. 10.1111/fcp.12314

By:

Micallef, Joëlle;
Boutouyrie, Pierre;
Blin, Olivier

Publication type:

Article

LITAF and TNFSF15, two downstream targets of AMPK, exert inhibitory effects on tumor growth.

Published in:

Oncogene, 2011, v. 30, n. 16, p. 1892, doi. 10.1038/onc.2010.575

By:

Zhou, J;
Yang, Z;
Tsuji, T;
Gong, J;
Xie, J;
Chen, C;
Li, W;
Amar, S;
Luo, Z

Publication type:

Article

A single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases.

Published in:

PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185317

By:

Waldron, Ashley L.;
Cahan, Sara Helms;
Franklyn, Christopher S.;
Ebert, Alicia M.

Publication type:

Article

Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 17, p. 6801, doi. 10.1523/JNEUROSCI.4442-14.2015

By:

Jianlong Zou;
Bo Hu;
Arpag, Sezgi;
Qing Yan;
Hamilton, Audra;
Yuan-Shan Zeng;
Vanoye, Carlos G.;
Jun Li

Publication type:

Article

Novel insights into SLC25A46-related pathologies in a genetic mouse model.

Published in:

PLoS Genetics, 2017, v. 13, n. 4, p. 1, doi. 10.1371/journal.pgen.1006656

By:

Terzenidou, Maria Eirini;
Segklia, Aikaterini;
Kano, Toshimi;
Papastefanaki, Florentia;
Karakostas, Alexandros;
Charalambous, Maria;
Ioakeimidis, Fotis;
Papadaki, Maria;
Kloukina, Ismini;
Chrysanthou-Piterou, Margarita;
Samiotaki, Martina;
Panayotou, George;
Matsas, Rebecca;
Douni, Eleni

Publication type:

Article

The function of Scox in glial cells is essential for locomotive ability in Drosophila.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-00663-2

By:

Kowada, Ryosuke;
Kodani, Atsushi;
Ida, Hiroyuki;
Yamaguchi, Masamitsu;
Lee, Im-Soon;
Okada, Yasushi;
Yoshida, Hideki

Publication type:

Article

Towards a Cure for HARS Disease.

Published in:

Genes, 2023, v. 14, n. 2, p. 254, doi. 10.3390/genes14020254

By:

Wilhelm, Sarah D. P.;
Kenana, Rosan;
Qiu, Yi;
O'Donoghue, Patrick;
Heinemann, Ilka U.

Publication type:

Article