Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous
neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell …
neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell …
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
Polyglutamine-coding (CAG) n repeat expansions in seven different genes cause
spinocerebellar ataxias. Although the size of the expansion is negatively correlated with age …
spinocerebellar ataxias. Although the size of the expansion is negatively correlated with age …
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
E Giorgio, D Robyr, M Spielmann… - Human molecular …, 2015 - academic.oup.com
Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie
autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological …
autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological …
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11. 22–q11. 2
We describe a four-generation Italian family with a novel form of juvenile-onset, slowly
progressive, autosomal dominant cerebellar ataxia. Eleven affected family members have …
progressive, autosomal dominant cerebellar ataxia. Eleven affected family members have …
An enhanced polymerase chain reaction assay to detect pre-and full mutation alleles of the fragile X mental retardation 1 gene
A Saluto, A Brussino, F Tassone, C Arduino… - The Journal of Molecular …, 2005 - Elsevier
Several diagnostic strategies have been applied to the detection of FMR1 gene repeat
expansions in fragile X syndrome. Here, we report a novel polymerase chain reaction-based …
expansions in fragile X syndrome. Here, we report a novel polymerase chain reaction-based …
Missense mutations in the AFG3L2 proteolytic domain account for∼ 1.5% of European autosomal dominant cerebellar ataxias
C Cagnoli, G Stevanin, A Brussino, M Barberis… - Human …, 2010 - Wiley Online Library
Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA)
caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m‐AAA …
caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m‐AAA …
A de novo X; 8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital …
E Di Gregorio, FT Bianchi, A Schiavi… - Journal of medical …, 2013 - jmg.bmj.com
Background and aim We identified a balanced de novo translocation involving
chromosomes Xq25 and 8q24 in an eight year-old girl with a non-progressive form of …
chromosomes Xq25 and 8q24 in an eight year-old girl with a non-progressive form of …
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia
A Brussino, C Gellera, A Saluto, C Mariotti, C Arduino… - Neurology, 2005 - AAN Enterprises
In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive
cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at …
cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at …
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and …
E Di Gregorio, E Riberi, EF Belligni, E Biamino… - Clinical …, 2017 - Wiley Online Library
Background Array‐comparative genomic hybridization (array‐CGH) is a widely used
technique to detect copy number variants (CNVs) associated with developmental …
technique to detect copy number variants (CNVs) associated with developmental …
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression
Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is
caused by duplications of the lamin B1 (LMNB 1) gene. However, as only a few cases have …
caused by duplications of the lamin B1 (LMNB 1) gene. However, as only a few cases have …