Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

Author:

Simonati Alessandro1ORCID,Williams Ruth E2,Nardocci Nardo3,Laine Minna4,Battini Roberta5,Schulz Angela6,Garavaglia Barbara2,Moro Francesca5,Pezzini Francesco1,Santorelli Filippo M5

Affiliation:

1. Department of Neuroscience, Biomedicine, Movement - Neurology (Child Neurology and Psychiatry, and Neuropathology); University of Verona; Verona Italy

2. Children's Neurosciences Centre; Guy's and St Thomas’ NHS Foundation Trust; London UK

3. Department of Developmental Neuroscience and Molecular Neurogenetics; IRCCS Foundation Neurological Institute C Besta; Milan Italy

4. Department of Child Neurology; Helsinki University Central Hospital; Peijas Hospital; HUCH; Helsinki Finland

5. Molecular Medicine Unit and Child Neurology; IRCCS Fondazione Stella Maris; Pisa Italy

6. Department of Paediatrics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

Funder

Seventh Framework Programme

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Reference25 articles.

1. Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy;Santorelli;Orphanet J Rare Dis,2013

2. The neuronal ceroid-lipofuscinosis;Haltia;J Neuropathol Exp Neurol,2003

3. Cell biology of the NCL proteins: what they do and don't do;Cacel-Trullos;Biochim Biophys Acta,2015

4. CLN5

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