Christopher J Record

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 26

Top Topics

Intellectual Disability

Top Venues

Brain : a journal of neurology

Journal of the peripheral nervous system : JPNS

Science advances

Journal of neurology, neurosurgery, and psychiatry

This page only lists publications with an associated author ORCID identifier.

Publications

Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Çakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain : a journal of neurology 147 (7) (2024)
Helena F Pernice, Luke Francis O'Donnell, Alexander Martin Rossor, Matilde Laura, Christopher J Record, Mariola Skorupinska, Julian Blake, Roy Poh, James Polke, Mary M Reilly
Digenic FLNA and UCHL1 variants resulting in a complex phenotype. Journal of the peripheral nervous system : JPNS 29 (1) (2024)
Paula Ayuso-García, Alejandro Sánchez-Rueda, Sergio Velasco-Aviles, Miguel Tamayo-Caro, Aroa Ferrer-Pinós, Cecilia Huarte-Sebastian, Vanesa Alvarez, Cristina Riobello, Selene Jiménez-Vega, Izaskun Buendia, Jorge Cañas-Martin, Héctor Fernández-Susavila, Adrián Aparicio-Rey, Eva M Esquinas-Román, Carlos Rodríguez Ponte, Romane Guhl, Nicolas Laville, Encarni Pérez-Andrés, José Luis Lavín, Monika González-Lopez, Nuria Macías Cámara, Ana María Aransay, Juan José Lozano, James D Sutherland, Rosa Barrio, María Luz Martinez-Chantar, Mikel Azkargorta, Félix Elortza, Mario Soriano-Navarro, Carlos Matute, María Victoria Sánchez-Gómez, Laura Bayón-Cordero, Alberto Pérez-Samartín, Susana Belén Bravo, Thimo Kurz, Tomás Lama-Díaz, Miguel G Blanco, Saif Haddad, Christopher J Record, Peter M van Hasselt, Mary M Reilly, Ashwin Woodhoo
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination. Science advances 10 (15) (2024)
Danique Beijer, Maike F Dohrn, Adriana P Rebelo, Matt C Danzi, Bianca Rose Grosz, Melina Ellis, Kishore Raj Kumar, Steve Vucic, Horia Vais, Jillian S Weissenrieder, Olesia Lunko, Usha Paudel, Leah C Simpson, Jacquelyn Raposo, Mario Saporta, Yeisha Arcia, Isaac Xu, Shawna Feely, Christopher J Record, Julian Blake, Mary M Reilly, Steven Scherer, Marina Kennerson, Yi-Chung Lee, J Kevin Foskett, Michael Shy, Stephan Zuchner
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain : a journal of neurology (2024)
Paula Ayuso-García, Alejandro Sánchez-Rueda, Sergio Velasco-Aviles, Miguel Tamayo-Caro, Aroa Ferrer-Pinós, Cecilia Huarte-Sebastian, Vanesa Alvarez, Cristina Riobello, Selene Jiménez-Vega, Izaskun Buendia, Jorge Cañas-Martin, Héctor Fernández-Susavila, Adrián Aparicio-Rey, Eva M Esquinas-Román, Carlos Rodríguez Ponte, Romane Guhl, Nicolas Laville, Encarni Pérez-Andrés, José Luis Lavín, Monika González-Lopez, Nuria Macías Cámara, Ana María Aransay, Juan José Lozano, James D Sutherland, Rosa Barrio, María Luz Martinez-Chantar, Mikel Azkargorta, Félix Elortza, Mario Soriano-Navarro, Carlos Matute, María Victoria Sánchez-Gómez, Laura Bayón-Cordero, Alberto Pérez-Samartín, Susana Belén Bravo, Thimo Kurz, Tomás Lama-Díaz, Miguel G Blanco, Saif Haddad, Christopher J Record, Peter M van Hasselt, Mary M Reilly, Ashwin Woodhoo
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination. Science advances 10 (15) (2024)
Helena F Pernice, Luke Francis O'Donnell, Alexander Martin Rossor, Matilde Laura, Christopher J Record, Mariola Skorupinska, Julian Blake, Roy Poh, James Polke, Mary M Reilly
Digenic FLNA and UCHL1 variants resulting in a complex phenotype. Journal of the peripheral nervous system : JPNS 29 (1) (2024)
Christopher J Record, Mary M Reilly
Lessons and pitfalls of whole genome sequencing. Practical neurology (2024)
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Çakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain : a journal of neurology (2024)
Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M Polke, Kelly Eggleton, Tina Nanji, Stephan Zuchner, Andreas Cortese, Henry Houlden, Alexander M Rossor, Matilde Laura, Mary M Reilly
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. Brain : a journal of neurology (2024)
Paula Ayuso-García, Alejandro Sánchez-Rueda, Sergio Velasco-Aviles, Miguel Tamayo-Caro, Aroa Ferrer-Pinós, Cecilia Huarte-Sebastian, Vanesa Alvarez, Cristina Riobello, Selene Jiménez-Vega, Izaskun Buendia, Jorge Cañas-Martin, Héctor Fernández-Susavila, Adrián Aparicio-Rey, Eva M Esquinas-Román, Carlos Rodríguez Ponte, Romane Guhl, Nicolas Laville, Encarni Pérez-Andrés, José Luis Lavín, Monika González-Lopez, Nuria Macías Cámara, Ana María Aransay, Juan José Lozano, James D Sutherland, Rosa Barrio, María Luz Martinez-Chantar, Mikel Azkargorta, Félix Elortza, Mario Soriano-Navarro, Carlos Matute, María Victoria Sánchez-Gómez, Laura Bayón-Cordero, Alberto Pérez-Samartín, Susana Belén Bravo, Thimo Kurz, Tomás Lama-Díaz, Miguel G Blanco, Saif Haddad, Christopher J Record, Peter M van Hasselt, Mary M Reilly, Ashwin Woodhoo
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination. Science advances 10 (15) (2024)
Paula Ayuso-García, Alejandro Sánchez-Rueda, Sergio Velasco-Aviles, Miguel Tamayo-Caro, Aroa Ferrer-Pinós, Cecilia Huarte-Sebastian, Vanesa Alvarez, Cristina Riobello, Selene Jiménez-Vega, Izaskun Buendia, Jorge Cañas-Martin, Héctor Fernández-Susavila, Adrián Aparicio-Rey, Eva M Esquinas-Román, Carlos Rodríguez Ponte, Romane Guhl, Nicolas Laville, Encarni Pérez-Andrés, José Luis Lavín, Monika González-Lopez, Nuria Macías Cámara, Ana María Aransay, Juan José Lozano, James D Sutherland, Rosa Barrio, María Luz Martinez-Chantar, Mikel Azkargorta, Félix Elortza, Mario Soriano-Navarro, Carlos Matute, María Victoria Sánchez-Gómez, Laura Bayón-Cordero, Alberto Pérez-Samartín, Susana Belén Bravo, Thimo Kurz, Tomás Lama-Díaz, Miguel G Blanco, Saif Haddad, Christopher J Record, Peter M van Hasselt, Mary M Reilly, Ashwin Woodhoo
Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination. Science advances 10 (15) (2024)
Christopher J Record, Mary M Reilly
Lessons and pitfalls of whole genome sequencing. Practical neurology 24 (4) (2024)
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Çakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain : a journal of neurology 147 (7) (2024)
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Çakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain : a journal of neurology 147 (7) (2024)
Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M Polke, Kelly Eggleton, Tina Nanji, Stephan Zuchner, Andreas Cortese, Henry Houlden, Alexander M Rossor, Matilde Laura, Mary M Reilly
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. Brain : a journal of neurology 147 (9) (2024)
Helena F Pernice, Luke Francis O'Donnell, Alexander Martin Rossor, Matilde Laura, Christopher J Record, Mariola Skorupinska, Julian Blake, Roy Poh, James Polke, Mary M Reilly
Digenic FLNA and UCHL1 variants resulting in a complex phenotype. Journal of the peripheral nervous system : JPNS (2023)
Luke Francis O'Donnell, Menelaos Pipis, John S Thornton, Baris Kanber, Stephen Wastling, Amy McDowell, Nick Zafeiropoulos, Matilde Laura, Mariola Skorupinska, Christopher J Record, Carolynne M Doherty, David N Herrmann, Henrik Zetterberg, Amanda J Heslegrave, Rhiannon Laban, Alexander Martin Rossor, Jasper M Morrow, Mary M Reilly
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation. Journal of neurology, neurosurgery, and psychiatry (2023)
Christopher J Record, Mariola Skorupinksa, Stephan Zuchner, Julian Blake, Mary M Reilly
SARS1 (SerRS) causing de novo dominant Charcot-Marie-Tooth disease with slow conduction. Annals of neurology (2023)
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, Adriana P Rebelo, Michael E Shy, Stephen W Scherer, Mary M Reilly, null null
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain : a journal of neurology (2023)
Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon, Rodrigo Siqueira Soares Frezatti, Sharika V Raga, Kireshnee Naidu, Özlem Yayıcı Köken, Ipek Polat, Musambo M Kapapa, Natalia Dominik, Stephanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J L F Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina I Trainor, Elizabeth C Steyn, Amokelani C Mahungu, Patrick J van der Vliet, Ahmet Cevdet Ceylan, A Semra Hiz, Büşranur Çavdarlı, C Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik B Tallapaka, Periyasamy Govindaraj, Silvère M van der Maarel, Gayathri Narayanappa, Bevinahalli N Nandeesh, Somwe Wa Somwe, David R Bearden, Michelle P Kvalsund, Gita M Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sarkozy, Enrico Bugiardini, Franclo Henning, Jo M Wilmshurst, Jeannine M Heckmann, Robert McFarland, Robert W Taylor, Izelle Smuts, Francois Hendrikus van der Westhuizen, Claudia Ferreira Da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin B Dalal, M V Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Yamuna Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horvath, Patrick F Chinnery, Robert D S Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcova, Mary M Reilly, Michael G Hanna
Neuromuscular disease genetics in underrepresented populations: increasing data diversity. Brain : a journal of neurology (2023)
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Eggermann Thomas, Danique Beijer, Jana Šoukalová, Matilde Laura, Alexander M Rossor, Radim Mazanec, Jonas Van Lent, Pedro José Tomaselli, Martin Ungelenk, Karlien Y Debus, Shawna M E Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta M Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra-Ramírez, Maryse Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques Junior, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello-Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji M Devassikutty, Sheela Nampoothiri, Maria J Rodovalho Doriqui, Wolfgang Müller-Felber, Katharina Vill, Tobias B Haack, Andreas Dufke, Michael Abele, Rolf Stucka, Saima Siddiqi, Noor Ullah, Stephanie Spranger, Deborah Chiabrando, Behiye S Bolgül, Yesim Parman, Pavel Seeman, Angelika Lampert, Jörg B Schulz, John N Wood, James J Cox, Michaela Auer-Grumbach, Vincent Timmerman, Jonathan de Winter, Andreas C Themistocleous, Michael Shy, David L H Bennett, Jonathan Baets, Christian A Hübner, Enrico Leipold, Stephan Züchner, Miriam Elbracht, Arman Çakar, Jan Senderek, Thorsten Hornemann, C Geoffrey Woods, Mary M Reilly, Ingo Kurth
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain : a journal of neurology (2023)
Gorka Fernández-Eulate, Julian Theuriet, Christopher J Record, Giorgia Querin, Marion Masingue, Sarah Leonard-Louis, Anthony Behin, Nadine Le Forestier, Antoine Pegat, Maud Michaud, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Celine Tard, Anne-Laure Bedat-Millet, Guilhem Sole, Marco Spinazzi, Emmanuelle Salort-Campana, Andoni Echaniz-Laguna, Vianney Poinsignon, Philippe Latour, Mary M Reilly, Francoise Bouhour, Kristl G Claeys
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy. Neurology. Genetics 9 (4) (2023)
Helena F Pernice, Luke Francis O'Donnell, Alexander Martin Rossor, Matilde Laura, Christopher J Record, Mariola Skorupinska, Julian Blake, Roy Poh, James Polke, Mary M Reilly
Digenic FLNA and UCHL1 variants resulting in a complex phenotype. Journal of the peripheral nervous system : JPNS (2023)
Christopher J Record, Menelaos Pipis, Julian Blake, Riccardo Curro, Michael P T Lunn, Alexander Martin Rossor, Matilde Laura, Andrea Cortese, Mary M Reilly
Unusual upper limb features in SORD neuropathy. Journal of the peripheral nervous system : JPNS 27 (2) (2022)
Christopher J Record, Rana Alnasser Alsukhni, Riccardo Curro, Diego Kaski, John S Rubin, Huw R Morris, Andrea Cortese, Valeria Iodice, Mary M Reilly
Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism. Journal of the peripheral nervous system : JPNS 27 (4) (2022)
Christopher J Record, Menelaos Pipis, Roy Poh, James M Polke, Mary M Reilly
Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. Journal of neurology, neurosurgery, and psychiatry (2022)