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Select item 10741381.

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.

P De Jonghe, V Timmerman, D FitzPatrick, P Spoelders, J J Martin, C Van Broeckhoven

J Neurol Neurosurg Psychiatry. 1997 Jun; 62(6): 570–573. doi: 10.1136/jnnp.62.6.570

PMCID:: PMC1074138

Summary Page Browse PDF–921K

Select item 49396792.

Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype

Leema Reddy Peddareddygari, Kinsi Oberoi, Jaasrini Reddy Vellore, Raji P. Grewal

Case Rep Neurol. 2016 May-Aug; 8(2): 120–126. Published online 2016 Jun 6. doi: 10.1159/000446872

PMCID:: PMC4939679

Abstract Article PDF–824K

Select item 30003443.

Rab7 Mutants Associated with Charcot-Marie-Tooth Disease Exhibit Enhanced NGF-Stimulated Signaling

Soumik BasuRay, Sanchita Mukherjee, Elsa Romero, Michael C. Wilson, Angela Wandinger-Ness

PLoS One. 2010; 5(12): e15351. Published online 2010 Dec 9. doi: 10.1371/journal.pone.0015351

PMCID:: PMC3000344

Abstract Article PDF–553K

Select item 17364504.

Autosomal dominant burning feet syndrome

F. Stogbauer, P. Young, G. Kuhlenbaumer, R. Kiefer, V. Timmerman, E Ringelstein, J. Wang, J Schroder, C. Van Broeckhoven, J. Weis

J Neurol Neurosurg Psychiatry. 1999 Jul; 67(1): 78–81. doi: 10.1136/jnnp.67.1.78

PMCID:: PMC1736450

Summary PDF–124K

Select item 88345145.

Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7^K126R Mutation

Roberta Romano, Victoria Stefania Del Fiore, Paola Saveri, Ilaria Elena Palamà, Chiara Pisciotta, Davide Pareyson, Cecilia Bucci, Flora Guerra

Cells. 2022 Feb; 11(3): 496. Published online 2022 Jan 31. doi: 10.3390/cells11030496

PMCID:: PMC8834514

Abstract Article PDF–6.9M

Select item 80983066.

Inherited Neuropathies: From Gene to Disease

Marcel P. Keller, Phillip F. Chance

Brain Pathol. 1999 Apr; 9(2): 327–341. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.1999.tb00230.x

PMCID:: PMC8098306

Summary PDF–133K

Select item 78675457.

Alteration of the late endocytic pathway in Charcot–Marie–Tooth type 2B disease

Roberta Romano, Cristina Rivellini, Maria De Luca, Rossana Tonlorenzi, Raffaella Beli, Fiore Manganelli, Maria Nolano, Lucio Santoro, Eeva-Liisa Eskelinen, Stefano C. Previtali, Cecilia Bucci

Cell Mol Life Sci. 2021 Jan; 78(1): 351–372. Published online 2020 Apr 13. doi: 10.1007/s00018-020-03510-1

PMCID:: PMC7867545

Abstract Article PDF–12M

Select item 72264058.

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

Paola Saveri, Maria De Luca, Veronica Nisi, Chiara Pisciotta, Roberta Romano, Giuseppe Piscosquito, Mary M. Reilly, James M. Polke, Tiziana Cavallaro, Gian Maria Fabrizi, Paola Fossa, Elena Cichero, Raffaella Lombardi, Giuseppe Lauria, Stefania Magri, Franco Taroni, Davide Pareyson, Cecilia Bucci

Cells. 2020 Apr; 9(4): 1028. Published online 2020 Apr 21. doi: 10.3390/cells9041028

PMCID:: PMC7226405

Abstract Article PDF–8.7M

Select item 67263969.

Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2

Yvette C. Wong, Wesley Peng, Dimitri Krainc

Dev Cell. Author manuscript; available in PMC 2020 Aug 5.

Published in final edited form as: Dev Cell. 2019 Aug 5; 50(3): 339–354.e4. Published online 2019 Jun 20. doi: 10.1016/j.devcel.2019.05.033

PMCID:: PMC6726396

Abstract Article PDF–2.7M

Select item 667153210.

Functional Characterization of Rab7 Mutant Proteins Associated with Charcot-Marie-Tooth Type 2B Disease

Maria Rita Spinosa, Cinzia Progida, Azzurra De Luca, Anna Maria Rosaria Colucci, Pietro Alifano, Cecilia Bucci

J Neurosci. 2008 Feb 13; 28(7): 1640–1648. doi: 10.1523/JNEUROSCI.3677-07.2008

PMCID:: PMC6671532

Abstract Article PDF–638K

Select item 610341011.

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B

David Colecchia, Mariangela Stasi, Margherita Leonardi, Fiore Manganelli, Maria Nolano, Bianca Maria Veneziani, Lucio Santoro, Eeva-Liisa Eskelinen, Mario Chiariello, Cecilia Bucci

Autophagy. 2018; 14(6): 930–941. Published online 2018 May 4. doi: 10.1080/15548627.2017.1388475

PMCID:: PMC6103410

Abstract Article PDF–2.6M

Select item 534386012.

Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?

Harry Liu, Chengbiao Wu

Int J Mol Sci. 2017 Feb; 18(2): 324. Published online 2017 Feb 4. doi: 10.3390/ijms18020324

PMCID:: PMC5343860

Abstract Article PDF–1.0M

Select item 460759813.

Charcot-Marie-Tooth disease: New insights from skin biopsy

Fiore Manganelli, Maria Nolano, Chiara Pisciotta, Vincenzo Provitera, Gian M. Fabrizi, Tiziana Cavallaro, Annamaria Stancanelli, Giuseppe Caporaso, Michael E. Shy, Lucio Santoro

Neurology. 2015 Oct 6; 85(14): 1202–1208. doi: 10.1212/WNL.0000000000001993

PMCID:: PMC4607598

Abstract Article PDF–469K

Select item 372285614.

Defective Axonal Transport of Rab7 GTPase Results in Dysregulated Trophic Signaling

Kai Zhang, Rotem Fishel Ben Kenan, Yasuko Osakada, Wei Xu, Rachel S. Sinit, Liang Chen, Xiaobei Zhao, Jia-Yun Chen, Bianxiao Cui, Chengbiao Wu

J Neurosci. 2013 Apr 24; 33(17): 7451–7462. doi: 10.1523/JNEUROSCI.4322-12.2013

PMCID:: PMC3722856

Abstract Article PDF–3.0M

Select item 354924815.

Charcot–Marie–Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin

Laura Cogli, Cinzia Progida, Claire L. Thomas, Bradley Spencer-Dene, Claudia Donno, Giampietro Schiavo, Cecilia Bucci

Acta Neuropathol. 2013; 125(2): 257–272. Published online 2012 Nov 23. doi: 10.1007/s00401-012-1063-8

PMCID:: PMC3549248

Abstract Article PDF–2.0M

Select item 354299816.

Rab7 Mutants Associated with Charcot-Marie-Tooth Disease Cause Delayed Growth Factor Receptor Transport and Altered Endosomal and Nuclear Signaling

Soumik BasuRay, Sanchita Mukherjee, Elsa G. Romero, Matthew N. J. Seaman, Angela Wandinger-Ness

J Biol Chem. 2013 Jan 11; 288(2): 1135–1149. Published online 2012 Nov 27. doi: 10.1074/jbc.M112.417766

PMCID:: PMC3542998

Abstract Article PDF–5.3M

Select item 275933717.

Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation

Annelies Rotthier, Jonathan Baets, Els De Vriendt, An Jacobs, Michaela Auer-Grumbach, Nicolas Lévy, Nathalie Bonello-Palot, Sara Sebnem Kilic, Joachim Weis, Andrés Nascimento, Marielle Swinkels, Moyo C. Kruyt, Albena Jordanova, Peter De Jonghe, Vincent Timmerman

Brain. 2009 Oct; 132(10): 2699–2711. Published online 2009 Aug 3. doi: 10.1093/brain/awp198

PMCID:: PMC2759337

Abstract Article PDF–377K

Select item 180151918.

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

J M Kwon, J L Elliott, W C Yee, J Ivanovich, N J Scavarda, P J Moolsintong, P J Goodfellow

Am J Hum Genet. 1995 Oct; 57(4): 853–858.

PMCID:: PMC1801519

Summary Page Browse PDF–1.0M

Select item 128709919.

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

Irina V. Mersiyanova, Alexander V. Perepelov, Alexander V. Polyakov, Vladimir F. Sitnikov, Elena L. Dadali, Roman B. Oparin, Alexander N. Petrin, Oleg V. Evgrafov

Am J Hum Genet. 2000 Jul; 67(1): 37–46. Published online 2000 Jun 7. doi: 10.1086/302962

PMCID:: PMC1287099

Abstract Article PDF–322K

Select item 118024720.

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Kristien Verhoeven, Peter De Jonghe, Katrien Coen, Nathalie Verpoorten, Michaela Auer-Grumbach, Jennifer M. Kwon, David FitzPatrick, Eric Schmedding, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Klaus Wagner, Hans-Peter Hartung, Vincent Timmerman

Am J Hum Genet. 2003 Mar; 72(3): 722–727. Published online 2003 Jan 21. doi: 10.1086/367847