Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

The Ever Expanding Spinocerebellar Ataxias. Editorial

(2012) Antoni Matilla-Dueñas   CEREBELLUM

Recent Advances in the Genetics of Cerebellar Ataxias

(2012) Anna Sailer et al.   Current Neurology and Neuroscience Reports

MouseFinder: Candidate disease genes from mouse phenotype data

(2012) Chao-Kung Chen et al.   HUMAN MUTATION

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

(2012) R. E. Williams et al.   NEUROLOGY

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

(2012) A. Sailer et al.   NEUROLOGY

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

Autosomal recessive cerebellar ataxias: the current state of affairs

(2011) S. Vermeer et al.   JOURNAL OF MEDICAL GENETICS

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

(2010) Yu Sun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome

(2010) S-C Chao et al.   CLINICAL GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I

(2010) Mariusz Walus et al.   HUMAN MUTATION

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

(2009) R Kohan et al.   CLINICAL GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency

(2008) Milan Elleder et al.   ACTA NEUROPATHOLOGICA

Crystal Structure and Autoactivation Pathway of the Precursor Form of Human Tripeptidyl-peptidase 1, the Enzyme Deficient in Late Infantile Ceroid Lipofuscinosis

(2008) Jayita Guhaniyogi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structure of Tripeptidyl-peptidase I Provides Insight into the Molecular Basis of Late Infantile Neuronal Ceroid Lipofuscinosis

(2008) Aritra Pal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis

(2008) David E. Sleat et al.   MOLECULAR GENETICS AND METABOLISM

CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype

(2007) C. Bessa et al.   MOLECULAR GENETICS AND METABOLISM