Early-onset phenotype of bi-allelic GRN mutations

Author:

Neuray Caroline12ORCID,Sultan Tipu3,Alvi Javeira Raza3,Franca Marcondes C4,Assmann Birgit5,Wagner Matias67ORCID,Canafoglia Laura8,Franceschetti Silvana8,Rossi Giacomina9,Santana Isabel1011,Macario Maria C1011,Almeida Maria R1112,Kamate Mahesh13,Parikh Sumit14,Elloumi Houda Zghal15,Murphy David1,Efthymiou Stephanie1,Maroofian Reza1,Houlden Henry1ORCID

Affiliation:

1. UCL Queen Square Institute of Neurology, University College London, London, UK

2. Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria

3. Department of Paediatric Neurology, Children’s Hospital and Institute of Child Health, Lahore, Pakistan

4. Department of Neurology, School of Medical Sciences, University of Campinas – UNICAMP, Campinas, Sao Paulo, Brazil

5. Department of Paediatrics, Medizinische Universität Heidelberg, Germany

6. Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany

7. Institute of Human Genetics, Technical University Munich, Munich, Germany

8. Neurolophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

9. Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

10. Department of Neurology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

11. Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal

12. Laboratory of Neurogenetics, Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal

13. Division of Pediatric Neurology, Department of Pediatrics, Kaher-University’s J N Medical College, Belgaum, India

14. Department of Mitochondrial Medicine and Neurogenetics, Cleveland Clinic, Cleveland, USA

15. GeneDx, Gaithersburg, MD, USA

Funder

SYNaPS Study Group collaboration funded by The Wellcome Trust and strategic award

Square Genomics group at University College London

National Institute for Health Research University College London Hospitals Biomedical Research Centre

MRC

The National Institute for Health Research University College London Hospitals Biomedical Research Centre

Rosetree Trust

Ataxia UK

MSA Trust

Brain Research UK

Sparks GOSH Charity

Muscular Dystrophy UK

Muscular Dystrophy Association

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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