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Select item 61728301.

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy “in disguise”

Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone, Paola Mandich

Orphanet J Rare Dis. 2018; 13: 177. Published online 2018 Oct 4. doi: 10.1186/s13023-018-0917-0

PMCID:: PMC6172830

Abstract Article PDF–513K

Select item 43423662.

Inducible HSP70 Is Critical in Preventing the Aggregation and Enhancing the Processing of PMP22

Vinita G. Chittoor-Vinod, Sooyeon Lee, Sarah M. Judge, Lucia Notterpek

ASN Neuro. 2015 Jan-Feb; 7(1): 1759091415569909. Published online 2015 Feb 5. doi: 10.1177/1759091415569909

PMCID:: PMC4342366

Abstract Article PDF–1.9M

Select item 44582963.

Association of PRPS1 Mutations with Disease Phenotypes

Rahul Mittal, Kunal Patel, Jeenu Mittal, Brandon Chan, Denise Yan, M'hamed Grati, Xue Zhong Liu

Dis Markers. 2015; 2015: 127013. Published online 2015 May 24. doi: 10.1155/2015/127013

PMCID:: PMC4458296

Abstract Article PDF–587K

Select item 46474794.

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A. Hübner, Christian Beetz

Orphanet J Rare Dis. 2015; 10: 147. Published online 2015 Nov 16. doi: 10.1186/s13023-015-0359-x

PMCID:: PMC4647479

Abstract Article PDF–1.5M

Select item 51423335.

The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C

Anita K. Ho, Jane L. Wagstaff, Paul T. Manna, Lena Wartosch, Seema Qamar, Elspeth F. Garman, Stefan M. V. Freund, Rhys C. Roberts

BMC Biol. 2016; 14: 109. Published online 2016 Dec 7. doi: 10.1186/s12915-016-0332-8

PMCID:: PMC5142333

Abstract Article PDF–3.2M

Select item 52268246.

The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient

Małgorzata Beręsewicz, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A. Krzyśko, Barbara Zabłocka

PLoS One. 2017; 12(1): e0169999. Published online 2017 Jan 11. doi: 10.1371/journal.pone.0169999

PMCID:: PMC5226824

Abstract Article PDF–3.5M

Select item 53829497.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Mustafa Y Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, Amna Al-Futaisi, Barry A Chioza, J Pedro Fernandez-Murray, Jay E Self, Claire G Salter, Gaurav V Harlalka, Lettie E Rawlins, Sana Al-Zuhaibi, Faisal Al-Azri, Fatma Al-Rashdi, Amaury Cazenave-Gassiot, Markus R Wenk, Fatema Al-Salmi, Michael A Patton, David L Silver, Emma L Baple, Christopher R McMaster, Andrew H Crosby

Brain. 2017 Mar; 140(3): 547–554. Published online 2017 Jan 4. doi: 10.1093/brain/aww318

PMCID:: PMC5382949

Abstract Article PDF–482K

Select item 54091308.

Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain

Daniele Ottaviani, Oriano Marin, Giorgio Arrigoni, Cinzia Franchin, Jordi Vilardell, Michele Sandre, Wenwen Li, David A. Parfitt, Lorenzo A. Pinna, Michael E. Cheetham, Maria Ruzzene

Hum Mol Genet. 2017 Feb 1; 26(3): 611–623. Published online 2016 Dec 28. doi: 10.1093/hmg/ddw420

PMCID:: PMC5409130

Abstract Article PDF–703K

Select item 54254019.

Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

Alberto Andrea Zambon, Maria Grazia Natali Sora, Giovanna Cantarella, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Stefano Carlo Previtali, Alessandra Bolino

Neuromuscul Disord. 2017 May; 27(5): 487–491. doi: 10.1016/j.nmd.2017.01.006

PMCID:: PMC5425401

Abstract Article

Select item 565894810.

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani

Ital J Pediatr. 2017; 43: 97. Published online 2017 Oct 27. doi: 10.1186/s13052-017-0414-4

PMCID:: PMC5658948

Abstract Article PDF–471K

Select item 569375411.

A Novel Missense Mutation in AIFM1 Results in Axonal Polyneuropathy and Misassembly of OXPHOS Complexes

Bo Hu, Michael Wang, Ryan Castoro, Megan Simmons, Richard Dortch, Robin Yawn, Jun Li

Eur J Neurol. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Eur J Neurol. 2017 Dec; 24(12): 1499–1506. Published online 2017 Oct 7. doi: 10.1111/ene.13452

PMCID:: PMC5693754

Abstract Article PDF–765K

Select item 583955412.

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

Abstract Article PDF–1.4M

Select item 422564713.

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, Boglarka Bansagi, Magdalena Zimon, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, Vedrana Milic Rasic, Jonathan Baets, Marina Bartsakoulia, Rafal Ploski, Pawel Teterycz, Milos Nikolic, Ros Quinlivan, Matilde Laura, Mary G. Sweeney, Franco Taroni, Michael P. Lunn, Isabella Moroni, Michael Gonzalez, Michael G. Hanna, Conceicao Bettencourt, Elodie Chabrol, Andre Franke, Katja von Au, Markus Schilhabel, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Sebastian Brandner, Siew Choo Lim, Haiwei Song, Byung-Ok Choi, Rita Horvath, Ki-Wha Chung, Stephan Zuchner, Davide Pareyson, Matthew Harms, Mary M. Reilly, Henry Houlden

Am J Hum Genet. 2014 Nov 6; 95(5): 590–601. doi: 10.1016/j.ajhg.2014.10.002

PMCID:: PMC4225647

Abstract Article PDF–2.9M

Select item 647864414.

Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks

Rosaria Rucco, Marianna Liparoti, Francesca Jacini, Fabio Baselice, Antonella Antenora, Giuseppe De Michele, Chiara Criscuolo, Antonio Vettoliere, Laura Mandolesi, Giuseppe Sorrentino, Pierpaolo Sorrentino

Neurol Sci. 2019; 40(5): 979–984. Published online 2019 Feb 8. doi: 10.1007/s10072-019-3725-y

PMCID:: PMC6478644

Abstract Article PDF–814K

Select item 652686815.

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman

Autophagy. 2019; 15(6): 1051–1068. Published online 2019 Jan 31. doi: 10.1080/15548627.2019.1569930

PMCID:: PMC6526868

Abstract Article PDF–4.0M

Select item 655933016.

Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations

Eun Hyuk Chang, Won Min Mo, Hyun Myung Doo, Ji-Su Lee, Hwan Tae Park, Byung-Ok Choi, Young Bin Hong

Int J Mol Med. 2019 Jul; 44(1): 125–134. Published online 2019 May 2. doi: 10.3892/ijmm.2019.4178

PMCID:: PMC6559330

Abstract Article PDF–1.4M

Select item 676462217.

Variants in MME are associated with autosomal‐recessive distal hereditary motor neuropathy

Daojun Hong, Pu Fang, Sheng Yao, Juanjuan Chen, Xiaolei Zhang, Shuyun Chen, Jingfen Zhang, Dandan Tan, Li Wang, Xinsheng Han, Ling Xin, Yan Wang, Meige Liu, Lu Cong, Shanshan Zhong, Hui Ouyang, Xuguang Gao, Jun Zhang

Ann Clin Transl Neurol. 2019 Sep; 6(9): 1728–1738. Published online 2019 Aug 20. doi: 10.1002/acn3.50868

PMCID:: PMC6764622

Abstract Article PDF–2.0M

Select item 678269518.

Altered Formation of Hemichannels and Gap Junction Channels Caused by C-Terminal Connexin-32 Mutations

Carmen Castro, Juan M. Gómez-Hernandez, Kaisa Silander, Luis C. Barrio

J Neurosci. 1999 May 15; 19(10): 3752–3760. doi: 10.1523/JNEUROSCI.19-10-03752.1999

PMCID:: PMC6782695

Abstract Article PDF–173K

Select item 1149344219.

Sensory-Motor Neuropathy in Mfn2 T105M Knock-in Mice and Its Reversal by a Novel Piperine-Derived Mitofusin Activator

Jochen Weigele, Lihong Zhang, Antonietta Franco, Etienne Cartier, Gerald W. Dorn, II

J Pharmacol Exp Ther. 2024 Nov; 391(2): 361–374. Published online 2024 Nov. doi: 10.1124/jpet.124.002258

PMCID:: PMC11493442

Abstract Article PDF–2.8M

Select item 682118420.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Frédéric M Vaz, John H McDermott, Mariëlle Alders, Saskia B Wortmann, Stefan Kölker, Mia L Pras-Raves, Martin A T Vervaart, Henk van Lenthe, Angela C M Luyf, Hyung L Elfrink, Kay Metcalfe, Sara Cuvertino, Peter E Clayton, Rebecca Yarwood, Martin P Lowe, Simon Lovell, Richard C Rogers, Deciphering Developmental Disorders Study, Antoine H C van Kampen, Jos P N Ruiter, Ronald J A Wanders, Sacha Ferdinandusse, Michel van Weeghel, Marc Engelen, Siddharth Banka

Brain. 2019 Nov; 142(11): 3382–3397. Published online 2019 Oct 22. doi: 10.1093/brain/awz291

PMCID:: PMC6821184

Abstract Article PDF–1.4M

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