Literature DB >> 31397905

CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.

Amanda S Freed1, Michael D Weiss2, Emily A Malouf3, Fuki M Hisama4.   

Abstract

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Year:  2019        PMID： 31397905      PMCID： PMC7605170          DOI： 10.1002/mus.26658

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  9 in total

1.  Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

Authors:  Jean-Michel Vallat; Mathilde Nizon; Alex Magee; Bertrand Isidor; Laurent Magy; Yann Péréon; Laurence Richard; Robert Ouvrier; Benjamin Cogné; Jérôme Devaux; Stephan Zuchner; Stéphane Mathis
Journal:  J Neuropathol Exp Neurol       Date:  2016-12-01       Impact factor: 3.685

2.  Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Authors:  Annie Laquérriere; Jérome Maluenda; Adrien Camus; Laura Fontenas; Klaus Dieterich; Flora Nolent; Jié Zhou; Nicole Monnier; Philippe Latour; Damien Gentil; Delphine Héron; Isabelle Desguerres; Pierre Landrieu; Claire Beneteau; Benoit Delaporte; Céline Bellesme; Clarisse Baumann; Yline Capri; Alice Goldenberg; Stanislas Lyonnet; Dominique Bonneau; Brigitte Estournet; Susana Quijano-Roy; Christine Francannet; Sylvie Odent; Marie-Hélène Saint-Frison; Sabine Sigaudy; Dominique Figarella-Branger; Antoinette Gelot; Jean-Marie Mussini; Catherine Lacroix; Valerie Drouin-Garraud; Marie-Claire Malinge; Tania Attié-Bitach; Bettina Bessieres; Maryse Bonniere; Ferechte Encha-Razavi; Anne-Marie Beaufrère; Suonary Khung-Savatovsky; Marie José Perez; Alexandre Vasiljevic; Sandra Mercier; Joelle Roume; Laetitia Trestard; Pascale Saugier-Veber; Marie-Pierre Cordier; Valérie Layet; Marine Legendre; Adeline Vigouroux-Castera; Joel Lunardi; Monica Bayes; Pierre S Jouk; Luc Rigonnot; Michèle Granier; Damien Sternberg; Josiane Warszawski; Ivo Gut; Marie Gonzales; Marcel Tawk; Judith Melki
Journal:  Hum Mol Genet       Date:  2013-12-06       Impact factor: 6.150

3.  Caspr and caspr2 are required for both radial and longitudinal organization of myelinated axons.

Authors:  Aaron Gordon; Konstantin Adamsky; Anya Vainshtein; Shahar Frechter; Jeffrey L Dupree; Jack Rosenbluth; Elior Peles
Journal:  J Neurosci       Date:  2014-11-05       Impact factor: 6.167

4.  Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Authors:  Paulomi Mehta; Melanie Küspert; Tejus Bale; Catherine A Brownstein; Meghan C Towne; Umberto De Girolami; Jiahai Shi; Alan H Beggs; Basil T Darras; Michael Wegner; Xianhua Piao; Pankaj B Agrawal
Journal:  Muscle Nerve       Date:  2017-02-03       Impact factor: 3.217

5.  Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Authors:  Shenela Lakhani; Ryan Doan; Mariam Almureikhi; Jennifer N Partlow; Muna Al Saffar; Mahmoud F Elsaid; Nada Alaaraj; A James Barkovich; Christopher A Walsh; Tawfeg Ben-Omran
Journal:  Eur J Med Genet       Date:  2017-02-27       Impact factor: 2.708

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

8.  Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

Authors:  K J Low; K Stals; R Caswell; M Wakeling; J Clayton-Smith; A Donaldson; N Foulds; A Norman; M Splitt; K Urankar; K Vijayakumar; A Majumdar; Ddd Study; S Ellard; S F Smithson
Journal:  Eur J Hum Genet       Date:  2018-03-06       Impact factor: 4.246

Review 9.  Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Authors:  Alexander M Rossor; James M Polke; Henry Houlden; Mary M Reilly
Journal:  Nat Rev Neurol       Date:  2013-09-10       Impact factor: 42.937
  9 in total
  3 in total

Review 1.  Mechanisms of node of Ranvier assembly.

Authors:  Matthew N Rasband; Elior Peles
Journal:  Nat Rev Neurosci       Date:  2020-11-25       Impact factor: 34.870

2.  A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy.

Authors:  Anna Letko; Katie M Minor; Steven G Friedenberg; G Diane Shelton; Jill Pesayco Salvador; Paul J J Mandigers; Peter A J Leegwater; Paige A Winkler; Simon M Petersen-Jones; Bryden J Stanley; Kari J Ekenstedt; Gary S Johnson; Liz Hansen; Vidhya Jagannathan; James R Mickelson; Cord Drögemüller
Journal:  Genes (Basel)       Date:  2020-11-27       Impact factor: 4.096

3.  Mutations of CNTNAP1 led to defects in neuronal development.

Authors:  Wanxing Li; Lin Yang; Chuanqing Tang; Kaiyi Liu; Yulan Lu; Huijun Wang; Kai Yan; Zilong Qiu; Wenhao Zhou
Journal:  JCI Insight       Date:  2020-11-05
  3 in total

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