Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale.

by Mieke C E Hermans, Janneke G J Hoeijmakers, Catharina G Faber, Ingemar S J Merkies
Published 2015-01-01

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.

by Bianca T A de Greef, Janneke G J Hoeijmakers, Emma E Wolters, Hubertus J M Smeets, Arthur van den Wijngaard, Ingemar S J Merkies, Catharina G Faber, Monique M Gerrits
Published 2016-01-01

Hydropathicity-based prediction of pain-causing NaV1.7 variants

by Makros N. Xenakis, Dimos Kapetis, Yang Yang, Monique M. Gerrits, Jordi Heijman, Stephen G. Waxman, Giuseppe Lauria, Catharina G. Faber, Ronald L. Westra, Patrick J. Lindsey, Hubert J. Smeets
Published 2021-04-01

Corneal confocal microscopy compared with quantitative sensory testing and nerve conduction for diagnosing and stratifying the severity of diabetic peripheral neuropathy

by Giuseppe Lauria, Catharina G Faber, Andrew Marshall, Georgios Ponirakis, Ioannis N Petropoulos, Uazman Alam, Rayaz A Malik, Handrean Soran, Maryam Ferdousi, Alise Kalteniece, Shazli Azmi, Anne Worthington, Luca D'Onofrio, Shaishav Dhage
Published 2020-12-01

Vibration threshold in non-diabetic subjects.

by Svea Nolte, Marco van Londen, Jan Willem J Elting, Bianca T A de Greef, Jan B M Kuks, Catharina G Faber, Ilja M Nolte, Rob J M Groen, Stephan J L Bakker, Dion Groothof, Ivonne Lesman-Leegte, Stefan P Berger, Gea Drost
Published 2020-01-01

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

by Judith M. Lionarons, Imelda J. M. de Groot, Johanna M. Fock, Sylvia Klinkenberg, Desiree M. J. Vrijens, Anita C. E. Vreugdenhil, Evita G. Medici-van den Herik, Inge Cuppen, Bregje Jaeger, Erik H. Niks, Rinske Hoogerhuis, Nicky Platte-van Attekum, Frans J. M. Feron, Catharina G. Faber, Jos G. M. Hendriksen, Johan S. H. Vles
Published 2021-07-01

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.

by Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz R Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits, on behalf on the PROPANE Study Group
Published 2020-01-01

Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.

by Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J M Smeets, Filippo Martinelli Boneschi, Rayaz A Malik, Dan Ziegler, Janneke G J Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G Waxman, Ingemar S J Merkies, Giuseppe Lauria, Catharina G Faber, Monique M Gerrits, on behalf on the PROPANE Study Group
Published 2021-01-01