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Select item 17393641.

Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I

J Kalkman, M Schillings, S P van der Werf, G Padberg, M Zwarts, B G M van Engelen, G Bleijenberg

J Neurol Neurosurg Psychiatry. 2005 Oct; 76(10): 1406–1409. doi: 10.1136/jnnp.2004.050005

PMCID:: PMC1739364

Summary PDF–65K Cite

Select item 16834712.

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

P Raeymaekers, V Timmerman, P De Jonghe, L Swerts, J Gheuens, J J Martin, L Muylle, G De Winter, A Vandenberghe, C Van Broeckhoven

Am J Hum Genet. 1989 Dec; 45(6): 953–958.

PMCID:: PMC1683471

Summary Page Browse PDF–739K Cite

Select item 16835263.

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

H R Middleton-Price, A E Harding, C Monteiro, J Berciano, S Malcolm

Am J Hum Genet. 1990 Jan; 46(1): 92–94.

PMCID:: PMC1683526

Summary Page Browse PDF–442K Cite

Select item 10161774.

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

A Brice, N Ravisé, G Stevanin, M Gugenheim, P Bouche, C Penet, Y Agid

J Med Genet. 1992 Nov; 29(11): 807–812. doi: 10.1136/jmg.29.11.807

PMCID:: PMC1016177

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Select item 10158125.

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

P Raeymaekers, V Timmerman, E Nelis, W Van Hul, P De Jonghe, J J Martin, C Van Broeckhoven

J Med Genet. 1992 Jan; 29(1): 5–11. doi: 10.1136/jmg.29.1.5

PMCID:: PMC1015812

Summary Page Browse PDF–1.5M Cite

Select item 10152876.

F response and somatosensory and brainstem auditory evoked potential studies in HMSN type I and II.

V Scaioli, D Pareyson, G Avanzini, A Sghirlanzoni

J Neurol Neurosurg Psychiatry. 1992 Nov; 55(11): 1027–1031. doi: 10.1136/jnnp.55.11.1027

PMCID:: PMC1015287

Summary Page Browse PDF–983K Cite

Select item 10151847.

Detection of hereditary motor sensory neuropathy type I in childhood.

T E Feasby, A F Hahn, C F Bolton, W F Brown, W J Koopman

J Neurol Neurosurg Psychiatry. 1992 Oct; 55(10): 895–897. doi: 10.1136/jnnp.55.10.895

PMCID:: PMC1015184

Summary Page Browse PDF–501K Cite

Select item 17368568.

Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies

S Sander, R Ouvrier, J McLeod, G Nicholson, J Pollard

J Neurol Neurosurg Psychiatry. 2000 Apr; 68(4): 483–488. doi: 10.1136/jnnp.68.4.483

PMCID:: PMC1736856

Summary PDF–266K Cite

Select item 106412009.

Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects

Ichiro Nozaki, Akihiro Hashiguchi, Hiroshi Takashima, Yoko Yamashita, Tomomi Higashide, Kazuo Iwasa, Kenjiro Ono

Intern Med. 2023 Oct 15; 62(20): 3033–3036. Published online 2023 Feb 15. doi: 10.2169/internalmedicine.1403-22

PMCID:: PMC10641200

Article PubReader PDF–401K Cite

Select item 1063185610.

Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives

Eduardo Boiteux Uchôa Cavalcanti, Rita de Cássia Carvalho Leal, Wilson Marques Junior, Osvaldo José Moreira do Nascimento

Arq Neuropsiquiatr. 2023 Oct; 81(10): 913–921. Published online 2023 Aug 23. doi: 10.1055/s-0043-1770348

PMCID:: PMC10631856

Article PubReader PDF–526K Cite

Select item 1057142011.

Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal

Yukio Ando, Marcia Waddington-Cruz, Yoshiki Sekijima, Haruki Koike, Mitsuharu Ueda, Hiroaki Konishi, Tomonori Ishii, Teresa Coelho

Orphanet J Rare Dis. 2023; 18: 323. Published online 2023 Oct 12. doi: 10.1186/s13023-023-02910-3

PMCID:: PMC10571420

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Select item 1055715112.

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12

Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah

BMC Med Genomics. 2023; 16: 235. Published online 2023 Oct 6. doi: 10.1186/s12920-023-01682-w

PMCID:: PMC10557151

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Select item 1054562013.

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light

Edouard Palu, Julius Järvilehto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Pirjo Isohanni, Henna Tyynismaa, Mari Auranen, Emil Ylikallio

Neurogenetics. 2023; 24(4): 291–301. Published online 2023 Aug 22. doi: 10.1007/s10048-023-00729-5

PMCID:: PMC10545620

Article PubReader PDF–881K Cite

Select item 1054550414.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Chiara Pisciotta, Shawna M E Feely, Thomas E Lloyd, Rita Horvath, Reza Sadjadi, David N Herrmann, Jun Li, David Walk, Sabrina W Yum, Richard A Lewis, John Day, Joshua Burns, Richard S Finkel, Mario A Saporta, Sindhu Ramchandren, Michael D Weiss, Gyula Acsadi, Vera Fridman, Francesco Muntoni, Roy Poh, James M Polke, Stephan Zuchner, Michael E Shy, Steven S Scherer, Mary M Reilly, for the Inherited Neuropathies Consortium—Rare Disease Clinical Research Network

Brain. 2023 Oct; 146(10): 4336–4349. Published online 2023 Jun 7. doi: 10.1093/brain/awad187

PMCID:: PMC10545504

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Select item 1044285415.

O-GlcNAc Modification Alters the Chaperone Activity of HSP27 Charcot-Marie-Tooth Type 2 (CMT2) Variants in a Mutation-Selective Fashion

Stuart P. Moon, Binyou Wang, Benjamin S. Ahn, Andrew H. Ryu, Eldon R. Hard, Afraah Javed, Matthew R. Pratt

ACS Chem Biol. 2023 Aug 18; 18(8): 1705–1712. Published online 2023 Aug 4. doi: 10.1021/acschembio.3c00292

PMCID:: PMC10442854

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Select item 1037906316.

The Current State of Charcot–Marie–Tooth Disease Treatment

Yuji Okamoto, Hiroshi Takashima

Genes (Basel) 2023 Jul; 14(7): 1391. Published online 2023 Jul 1. doi: 10.3390/genes14071391

PMCID:: PMC10379063

Article PubReader PDF–305K Cite

Select item 1036864017.

Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy

Hiroko Ueda, Quynh Thuy Huong Tran, Linh Nguyen Truc Tran, Koichiro Higasa, Yoshiki Ikeda, Naoyuki Kondo, Masaki Hashiyada, Chika Sato, Yoshinori Sato, Akira Ashida, Saori Nishio, Yasunori Iwata, Hiroyuki Iida, Daisuke Matsuoka, Yoshihiko Hidaka, Kenji Fukui, Suzu Itami, Norihito Kawashita, Keisuke Sugimoto, Kandai Nozu, Motoshi Hattori, Hiroyasu Tsukaguchi

Sci Rep. 2023; 13: 12003. Published online 2023 Jul 25. doi: 10.1038/s41598-023-38588-7

PMCID:: PMC10368640

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Select item 1031170718.

A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review

Haofeng Chen, Chong Sun, Yongsheng Zheng, Junxiong Yin, Mingshi Gao, Chongbo Zhao, Jie Lin

BMC Neurol. 2023; 23: 250. Published online 2023 Jun 30. doi: 10.1186/s12883-023-03260-0

PMCID:: PMC10311707

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Select item 1029846219.

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali

Int J Mol Sci. 2023 Jun; 24(12): 9786. Published online 2023 Jun 6. doi: 10.3390/ijms24129786

PMCID:: PMC10298462

Article PubReader PDF–967K Cite

Select item 1026508820.

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei

Mol Genet Genomic Med. 2023 Jun; 11(6): e2159. Published online 2023 Mar 3. doi: 10.1002/mgg3.2159

PMCID:: PMC10265088

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