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Select item 106858631.

Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran

Masoumeh Goleyjani Moghadam, Zohreh Elahi, Mohamad Soveyzi, Sanaz Arzhangi, Shahriar Nafissi, Hossein Najmabadi, Kimia Kahrizi, Zohreh Fattahi

Arch Iran Med. 2023 May; 26(5): 279–284. Published online 2023 May 1. doi: 10.34172/aim.2023.43

PMCID:: PMC10685863

Article PDF–719K

Select item 74913852.

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Natalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, Danique Beijer, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Nico Fuhrmann, Irmgard Hölker, Maximilian P. Thelen, Sebastian Zetzsche, Roman Rombo, Erik G. Puffenberger, Peter De Jonghe, Tine Deconinck, Stephan Zuchner, Kevin A. Strauss, Vincent Carson, Bertold Schrank, Gilbert Wunderlich, Jonathan Baets, Brunhilde Wirth

Am J Hum Genet. 2020 Oct 1; 107(4): 763–777. Published online 2020 Sep 15. doi: 10.1016/j.ajhg.2020.08.018

PMCID:: PMC7491385

Article PDF–2.2M

Select item 58395543.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320

PMCID:: PMC5839554

Article PDF–1.4M

Select item 39834074.

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease

Hamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, Maria Vaz Pato, Nuno Pinto, Luca Bartesaghi, Jennifer Zenker, Olivier Poirot, Nathalie Bernard-Marissal, Estelle Arnaud Gouttenoire, Romain Cartoni, Alexandra Title, Giulia Venturini, Jean-Jacques Médard, Edward Makowski, Ludger Schöls, Kristl G. Claeys, Claudia Stendel, Andreas Roos, Joachim Weis, Odile Dubourg, José Leal Loureiro, Giovanni Stevanin, Gérard Said, Anthony Amato, Jay Baraban, Eric LeGuern, Jan Senderek, Carlo Rivolta, Roman Chrast

Hum Mol Genet. 2013 Oct 15; 22(20): 4224–4232. Published online 2013 Jun 17. doi: 10.1093/hmg/ddt274

PMCID:: PMC3983407

Article PDF–1.2M

Select item 36854835.

Update on Charcot-Marie-Tooth Disease

Ágnes Patzkó, Michael E. Shy

Curr Neurol Neurosci Rep. Author manuscript; available in PMC 2013 Jun 18.

Published in final edited form as: Curr Neurol Neurosci Rep. 2011 Feb; 11(1): 78–88. doi: 10.1007/s11910-010-0158-7

PMCID:: PMC3685483

Article PDF–488K

Select item 31551646.

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury-Ecob, Sian Ellard

Am J Hum Genet. 2011 Aug 12; 89(2): 308–312. doi: 10.1016/j.ajhg.2011.07.002

PMCID:: PMC3155164

Article PDF–154K

Select item 31551597.

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, Masoud Shekarabi, Sébastien Holbert, Julie Lafontaine, Myriam Srour, Nancy Merner, Daniel Rochefort, Pascale Hince, Rébecca Gaudet, Anne-Marie Mes-Masson, Jonathan Baets, Henry Houlden, Bernard Brais, Garth A. Nicholson, Hilde Van Esch, Shahriar Nafissi, Peter De Jonghe, Mary M. Reilly, Vincent Timmerman, Patrick A. Dion, Guy A. Rouleau

Am J Hum Genet. 2011 Aug 12; 89(2): 219–230. doi: 10.1016/j.ajhg.2011.06.013

PMCID:: PMC3155159

Article PDF–943K

Select item 29488078.

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Annelies Rotthier, Michaela Auer-Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Leonardo Almeida-Souza, Kim Van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter-Weigel, Wolfgang Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman

Am J Hum Genet. 2010 Oct 8; 87(4): 513–522. doi: 10.1016/j.ajhg.2010.09.010

PMCID:: PMC2948807

Article PDF–740K

Select item 23112809.

Hereditary sensory neuropathy type I

Michaela Auer-Grumbach

Orphanet J Rare Dis. 2008; 3: 7. Published online 2008 Mar 18. doi: 10.1186/1750-1172-3-7

PMCID:: PMC2311280

Article PDF–277K

Select item 1089499310.

Neuromuscular manifestations of wild type transthyretin amyloidosis: a review and single center’s experience

Sasha A. Živković, David Lacomis, Prem Soman

Front Cardiovasc Med. 2024; 11: 1345608. Published online 2024 Feb 12. doi: 10.3389/fcvm.2024.1345608

PMCID:: PMC10894993

Article PDF–602K

Select item 1076152311.

Effects of intensive rehabilitation on functioning in patients with mild and moderate Charcot–Marie-Tooth disease: a real-practice retrospective study

Francesco Ferraro, Dario Calafiore, Claudio Curci, Francesco Fortunato, Irene Carantini, Filippo Genovese, Giuseppe Lucchini, Andrea Merlo, Antonio Ammendolia, Alessandro de Sire

Neurol Sci. 2024; 45(1): 289–297. Published online 2023 Aug 8. doi: 10.1007/s10072-023-06998-0

PMCID:: PMC10761523

Article PDF–839K

Select item 1052367412.

Automated calibration of somatosensory stimulation using reinforcement learning

Luigi Borda, Noemi Gozzi, Greta Preatoni, Giacomo Valle, Stanisa Raspopovic

J Neuroeng Rehabil. 2023; 20: 131. Published online 2023 Sep 26. doi: 10.1186/s12984-023-01246-0

PMCID:: PMC10523674

Article PDF–1.8M

Select item 1015692213.

Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre

Renitha Reddi, Gabriella A Horvath

Paediatr Child Health. 2023 May; 28(2): 97–101. Published online 2022 Dec 16. doi: 10.1093/pch/pxac098

PMCID:: PMC10156922

Article PDF–144K

Select item 1010461314.

Clinical Reasoning: A 23-Year-Old Man With Progressive Asymmetric Weakness and Numbness

Emma H. Kaplan, Kaveh Torabian, Camille V. Edwards, Michelle C. Kaku, Pria Anand, K. H. Vincent Lau

Neurology. 2023 Apr 4; 100(14): 674–682. doi: 10.1212/WNL.0000000000206773

PMCID:: PMC10104613

Article PDF–182K

Select item 819952415.

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli, Vittoria Petruzzella

BMC Med Genomics. 2021; 14: 157. Published online 2021 Jun 12. doi: 10.1186/s12920-021-01001-1