Sara E Mole

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 8

Top Topics

Autism Spectrum Disorder

Replacement Therapy

Cerebrospinal Fluid

Top Venues

Molecular genetics & genomic medicine

Developmental medicine and child neurology

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

Publications

Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E Mole, Jayesh Sheth, Andreas Puschmann
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants. Molecular genetics & genomic medicine 12 (8) (2024)
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E Mole, Jayesh Sheth, Andreas Puschmann
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants. Molecular genetics & genomic medicine 12 (8) (2024)
Irene Lopez-Fabuel, Marina García Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Paula Alonso-Batan, Brenda Morant-Ferrando, Carlos Vicente-Gutierrez, Daniel Jimenez-Blasco, Rubèn Quintana-Cabrera, Emilio Fernandez, Jordi Llop, Pedro Ramos-Cabrer, Aseel Sharaireh, Marta Guevara-Ferrer, Lorna Fitzpatrick, Christopher D Thompton, Tristan R McKay, Stephan Storch, Diego Luis Medina, Sara E Mole, Peter O Fedichev, Ángeles Almeida, Juan Pedro Bolaños
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nature communications 13 (1) (2022)
Katharina Iwan, Nina Patel, Amanda J Heslegrave, Mina Borisova, Laura Lee, Rebecca Bower, Sara E Mole, Philippa B Mills, Henrik Zetterberg, Kevin A Mills, Paul Gissen, Wendy E Heywood
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. F1000Research 10 (2021)
Sara E Mole, Angela Schulz, Eben Badoe, Samuel F Berkovic, Emily C de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M Lourenco, Heather L Mason, Jonathan W Mink, Noreen Murphy, Miriam Nickel, Joffre E Olaya, Maurizio Scarpa, Ingrid E Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y Wang, Ruth E Williams
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet journal of rare diseases 16 (1) (2021)
Katharina Iwan, Nina Patel, Amanda J Heslegrave, Mina Borisova, Laura Lee, Rebecca Bower, Sara E Mole, Philippa B Mills, Henrik Zetterberg, Kevin A Mills, Paul Gissen, Wendy E Heywood
Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. F1000Research 10 (2021)
Emily Gardner, Mitch Bailey, Angela Schulz, Mikel Aristorena, Nicole Miller, Sara E Mole
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Human mutation 40 (11) (2019)
Sara E Mole
The value of a comprehensive natural history in late infantile CLN5 disease. Developmental medicine and child neurology 59 (8) (2017)