TY  - GEN
AU  - Simonati,Alessandro
AU  - Tessa,Alessandra
AU  - Bernardina,Bernardo Dalla
AU  - Biancheri,Roberta
AU  - Veneselli,Edvige
AU  - Tozzi,Giulia
AU  - Bonsignore,Maria
AU  - Grosso,Salvatore
AU  - Piemonte,Fiorella
AU  - Santorelli,Filippo M
TI  - Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations
SN  - 0887-8994
PY  - 2009///0522
KW  - Adolescent
KW  - Age of Onset
KW  - Alleles
KW  - Brain
KW  - pathology
KW  - Child
KW  - Child Behavior Disorders
KW  - etiology
KW  - Child Development
KW  - Child, Preschool
KW  - Disease Progression
KW  - Electrodiagnosis
KW  - Electroencephalography
KW  - Female
KW  - Gene Deletion
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Membrane Proteins
KW  - genetics
KW  - Mutation
KW  - physiology
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Seizures
KW  - Sleep
KW  - Speech Disorders
KW  - Thiolester Hydrolases
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.pediatrneurol.2008.10.018
ER  -