Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM : operational lessons, screening and baseline data of the Unite-CNM study

Bron
Journal of neuromuscular diseases - ISSN 2214-3599- (2026) p.
Auteur(s)
    Olga Prikhodko, Tatyana A. Vetter, Sophie Colombo, Chris Freitag, Dominique Nijkamp, Louise Eyler, Leen Thielemans, Jonathan Baets, Mads Stemmerik, John Vissing, Ros Quinlivan, Michela Guglieri, Federica Montagnese, Benedikt Schoser, Frederik Braun, Ulrike Schara, Kris E. Leeuwenberg, Nens van Alfen, Michael W. Lawlor, Belinda S. Cowling, Nicol C. Voermans

Heterozygous OGDH variants are involved in peripheral neuropathy with ataxia and optical atrophy

Bron
JIMD Reports - ISSN 2192-8312-67:4 (2026) p.
Auteur(s)

Expanding the genetic and phenotypic spectrum of DYT-VPS16 : the importance of splice-site variants

Bron
Movement disorders: video, videotape supplements - ISSN 0885-3185-41:1 (2026) p. 84-94
Auteur(s)
    Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marce-grau, Ana Cazurro-gutierrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al-ali, Mariana Ferreira, Ligia S. Almeida, Taina Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Peter Klivenyi, Andras Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada-arismendy, Goran Cuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinksel, Ales Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belen Perez-duenas, Aida M. Bertoli-avella