Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

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)

(2013) Yu Sun et al.   HUMAN MUTATION

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

(2013) Filippo Maria Santorelli et al.   Orphanet Journal of Rare Diseases

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

(2012) M. Grapp et al.   BRAIN

The Ever Expanding Spinocerebellar Ataxias. Editorial

(2012) Antoni Matilla-Dueñas   CEREBELLUM

Diagnostic Approach to Childhood-Onset Cerebellar Atrophy

(2012) Almundher Al-Maawali et al.   JOURNAL OF CHILD NEUROLOGY

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

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

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

(2010) M. S. Ebberink et al.   JOURNAL OF MEDICAL GENETICS

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY

Differential diagnosis of cerebellar atrophy in childhood

(2007) Andrea Poretti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY