hereditary motor and sensory neuropathy - PMC

Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stephanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laura, Alexander M Rossor, Hadi Manji, Michael P Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas J Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M Bronstein, Henry Houlden, Mary M Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese

Brain. 2021 May; 144(5): 1542–1550. Published online 2021 May 9. doi: 10.1093/brain/awab072

PMCID:: PMC8262986

Article PDF–780K

Select item 29870114.

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)

Janina Hantke, David Chandler, Rosalind King, Ronald JA Wanders, Dora Angelicheva, Ivailo Tournev, Elyshia McNamara, Marcel Kwa, Velina Guergueltcheva, Radka Kaneva, Frank Baas, Luba Kalaydjieva

Eur J Hum Genet. 2009 Dec; 17(12): 1606–1614. Published online 2009 Jun 17. doi: 10.1038/ejhg.2009.99

PMCID:: PMC2987011

Article PDF–373K

Select item 67034515.

Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum

Masoud Shekarabi, Randal X. Moldrich, Sarah Rasheed, Adéle Salin-Cantegrel, Janet Laganière, Daniel Rochefort, Pascale Hince, Karine Huot, Rébecca Gaudet, Nyoman Kurniawan, Susana G. Sotocinal, Jennifer Ritchie, Patrick A. Dion, Jeffrey S. Mogil, Linda J. Richards, Guy A. Rouleau

J Neurosci. 2012 Mar 14; 32(11): 3865–3876. doi: 10.1523/JNEUROSCI.3679-11.2012

PMCID:: PMC6703451

Article PDF–4.0M

Select item 71663806.

2017 Peripheral Nerve Society Meeting July 8–12, 2017 Sitges, Barcelona, Spain

J Peripher Nerv Syst. 2017 Sep; 22(3): 226–414. Published online 2017 Jun 22. doi: 10.1111/jns.12225

PMCID:: PMC7166380

Article PDF–1.6M

Select item 34155347.

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, Garth A. Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji, Shoji Tsuji

Am J Hum Genet. 2012 Aug 10; 91(2): 320–329. doi: 10.1016/j.ajhg.2012.07.014

PMCID:: PMC3415534

Article PDF–1.6M

Select item 42942958.

Talectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I

Hristo Georgiev, Georgi P. Georgiev

Case Rep Orthop. 2014; 2014: 643480. Published online 2014 Dec 31. doi: 10.1155/2014/643480

PMCID:: PMC4294295

Article PDF–2.3M

Select item 99769579.

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype

Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen

Brain. 2023 Mar; 146(3): 912–922. Published online 2022 Dec 21. doi: 10.1093/brain/awac488

PMCID:: PMC9976957

Article PDF–505K

Select item 929387010.

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes

Yu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, Jun-Hui Yuan, Masahiro Ando, Yujiro Higuchi, Akihiro Hashiguchi, Eiji Matsuura, Fumihito Nozaki, Tomohiro Kumada, Kei Murayama, Mikiya Suzuki, Yuki Yamamoto, Naoko Matsui, Yoshimichi Miyazaki, Masamitsu Yamaguchi, Youji Suzuki, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroshi Takashima

J Neurol. 2022; 269(8): 4129–4140. Published online 2022 Mar 2. doi: 10.1007/s00415-022-11026-w

PMCID:: PMC9293870

Article PDF–2.7M

Select item 1046840611.

Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis

Hiroshi Shoji, Ryosuke Sakamoto, Chisato Saito, Kozo Akino, Masahiko Taniguchi

Intractable Rare Dis Res. 2023 Aug; 12(3): 198–201. doi: 10.5582/irdr.2023.01051

PMCID:: PMC10468406

Article PDF–248K

Select item 768000412.

Myocardial ischaemia reperfusion injury and cardioprotection in the presence of sensory neuropathy: Therapeutic options

Péter Bencsik, Kamilla Gömöri, Tamara Szabados, Péter Sántha, Zsuzsanna Helyes, Gábor Jancsó, Péter Ferdinandy, Anikó Görbe

Br J Pharmacol. 2020 Dec; 177(23): 5336–5356. Published online 2020 Mar 21. doi: 10.1111/bph.15021

PMCID:: PMC7680004

Article PDF–12M

Select item 677746413.

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

Volkan Okur, Megan T. Cho, Richard van Wijk, Brigitte van Oirschot, Jonathan Picker, Stephanie A. Coury, Dorothy Grange, Linda Manwaring, Ian Krantz, Colleen Clark Muraresku, Peter J. Hulick, Holley May, Eric Pierce, Emily Place, Kinga Bujakowska, Aida Telegrafi, Ganka Douglas, Kristin G. Monaghan, Amber Begtrup, Ashley Wilson, Kyle Retterer, Kwame Anyane-Yeboa, Wendy K. Chung

Eur J Hum Genet. 2019 Jul; 27(7): 1081–1089. Published online 2019 Feb 18. doi: 10.1038/s41431-019-0366-9

PMCID:: PMC6777464

Article PDF–1.1M

Select item 317053314.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Jonathan Baets, Tine Deconinck, Els De Vriendt, Magdalena Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yesim Parman, Berten Ceulemans, Patrick Van Bogaert, Adolf Pou-Serradell, Günther Bernert, Argirios Dinopoulos, Michaela Auer-Grumbach, Satu-Leena Sallinen, Gian Maria Fabrizi, Fernand Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloglu, Ricardo E. Madrid, Dagmara Kabzińska, Andrzej Kochanski, Haluk Topaloglu, Geoffrey Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

Brain. 2011 Sep; 134(9): 2664–2676. Published online 2011 Aug 11. doi: 10.1093/brain/awr184

PMCID:: PMC3170533

Article PDF–353K

Select item 962262315.

Hereditary motor and sensory neuropathy with SOD1-mutant: A case report

Zhong Luo, Linhai Zhang, Juan Yang, Haiqing Zhang, Tao Liang

Medicine (Baltimore) 2022 Oct 28; 101(43): e31378. Published online 2022 Oct 28. doi: 10.1097/MD.0000000000031378

PMCID:: PMC9622623

Article PDF–460K

Select item 1063220916.

Sensory neuropathy in amyotrophic lateral sclerosis: a systematic review

Alessandro Bombaci, Antonino Lupica, Federico Emanuele Pozzi, Giulia Remoli, Umberto Manera, Vincenzo Di Stefano

J Neurol. 2023; 270(12): 5677–5691. Published online 2023 Aug 23. doi: 10.1007/s00415-023-11954-1

PMCID:: PMC10632209

Article PDF–912K

Select item 107409717.

Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.

R M Chalmers, P Riordan-Eva, N W Wood

J Neurol Neurosurg Psychiatry. 1997 Apr; 62(4): 385–387. doi: 10.1136/jnnp.62.4.385

PMCID:: PMC1074097

Summary Page Browse PDF–560K

Select item 930998018.

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta, A. Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R. Nickolls, Naemeh Pourshafie, Sarah B. Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E. Le Pichon, Chiara Fiorillo, Cindy V. Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Helio Pedro, Eric Mittelmann, Florian P. Thomas, Katherine R. Chao, Chamindra G. Konersman, Megan T. Cho, Tracy Brandt, Volker Straub, Anne M. Connolly, Ulrike Schara, Andreas Roos, Mark Tarnopolsky, Ahmet Höke, Robert H. Brown, Chia-Hsueh Lee, Thorsten Hornemann, Teresa M. Dunn, Carsten G. Bönnemann

Nat Med. Author manuscript; available in PMC 2022 Jul 25.

Published in final edited form as: Nat Med. 2021 Jul; 27(7): 1197–1204. Published online 2021 May 31. doi: 10.1038/s41591-021-01346-1

PMCID:: PMC9309980

Article PDF–3.5M

Select item 101417719.

Diaphragmatic weakness in hereditary motor and sensory neuropathy.

R Hardie, A E Harding, N Hirsch, C Gelder, A D Macrae, P K Thomas

J Neurol Neurosurg Psychiatry. 1990 Apr; 53(4): 348–350. doi: 10.1136/jnnp.53.4.348

PMCID:: PMC1014177

Summary Page Browse PDF–477K

Select item 105157920.

Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.

J L Tolmie, D E Wilcox, R McWilliam, A Assindi, J B Stephenson

J Med Genet. 1988 Nov; 25(11): 754–757. doi: 10.1136/jmg.25.11.754

PMCID:: PMC1051579

Summary Page Browse PDF–693K

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PMC Images search for hereditary motor and sensory neuropathy

Figure 4

Postoperative anteroposterior (a) and lateral (b, c) radiographs of the patient (brother) with hereditary motor and sensory neuropathy type I.

Talectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I

Case Rep Orthop. 2014;2014:643480.
Figure 3

Postoperative anteroposterior (a) and lateral (b, c) radiographs of the patient (sister) with hereditary motor and sensory neuropathy type I.

Talectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I

Case Rep Orthop. 2014;2014:643480.
Figure 5

Postoperative photograph of the patients: (a) sister and (b) brother with hereditary motor and sensory neuropathy type I.

Talectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I

Case Rep Orthop. 2014;2014:643480.
Figure 2

Preoperative anteroposterior (a, c) and lateral (b, d) radiographs of the patients with hereditary motor and sensory neuropathy type I.

Talectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I

Case Rep Orthop. 2014;2014:643480.