Background: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. Ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in APTX (chromosome 9p21.1). Case presentation: Our patient has a clinical presentation that is typical for ataxia with oculomotor apraxia type 1 with no particularly severe phenotype. Multiplex Ligation-dependent Probe Amplification analysis resulted in the identification of a homozygous deletion of all coding APTX exons (3 to 9). SNP array analysis using the Illumina Infinium CytoSNP-850 K microarray...
Background: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 an...
Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase...
BACKGROUND: Phenotype-genotype correlations, generally based on predominant associated signs, are be...
Background: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disord...
textabstractBackground: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegener...
BackgroundAtaxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar atax...
BACKGROUND: Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar at...
Ataxia oculomotor apraxia type 1 (AOA1) is the most common form of autosomal recessive ataxia in Jap...
Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the...
Abstract Background The autosomal recessively inherited ataxia with oculomotor apraxia 2 (AOA2) is a...
How to Cite This Article: Karimzadeh P, khayatzadeh kakhki S,Esmail Nejad Sh. S., Houshmand M,Ghofra...
Abstract Background Autosomal recessive ataxias represent a group of clinically overlapping disorder...
Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebe...
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 an...
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 an...
Background: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 an...
Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase...
BACKGROUND: Phenotype-genotype correlations, generally based on predominant associated signs, are be...
Background: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disord...
textabstractBackground: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegener...
BackgroundAtaxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar atax...
BACKGROUND: Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar at...
Ataxia oculomotor apraxia type 1 (AOA1) is the most common form of autosomal recessive ataxia in Jap...
Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the...
Abstract Background The autosomal recessively inherited ataxia with oculomotor apraxia 2 (AOA2) is a...
How to Cite This Article: Karimzadeh P, khayatzadeh kakhki S,Esmail Nejad Sh. S., Houshmand M,Ghofra...
Abstract Background Autosomal recessive ataxias represent a group of clinically overlapping disorder...
Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebe...
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 an...
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 an...
Background: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 an...
Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase...
BACKGROUND: Phenotype-genotype correlations, generally based on predominant associated signs, are be...