A NovelGBA2Gene Missense Mutation in Spastic Ataxia

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ceramide function in the brain: when a slight tilt is enough

(2012) Chiara Mencarelli et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The Non-lysosomal β-Glucosidase GBA2 Is a Non-integral Membrane-associated Protein at the Endoplasmic Reticulum (ER) and Golgi

(2012) Heinz G. Körschen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Investigation of SCA10 in the Cypriot population: Further exclusion of SCA dynamic repeat mutations

(2012) Christina Votsi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

(2012) D. Tsuang et al.   NEUROLOGY

Reviewing the genetic causes of spastic-ataxias

(2012) S. T. de Bot et al.   NEUROLOGY

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

(2011) Hiroshi Doi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

(2009) M. Anheim et al.   NEUROGENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

(2008) Paschalis Nicolaou et al.   BMC Medical Genetics

Ataxia With Oculomotor Apraxia Type 1 (AOA1): Clinical and Neuropsychological Features in 2 New Patients and Differential Diagnosis

(2008) Stefano D'Arrigo et al.   JOURNAL OF CHILD NEUROLOGY