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Mitochondria as Novel Players of the Cellular RNA Interference

The Journal of biological chemistry, 2011-09, Vol.286 (38), p.le19-le19

2011

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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

Neurology, 2009-10, Vol.73 (14), p.1111

2009

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Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

Journal of medical genetics, 2010-12, Vol.47 (12), p.829-834

2010

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Targeted NGS: an effective approach for molecular diagnosis of hereditary vitreoretinopathies

Acta ophthalmologica (Oxford, England), 2017-09, Vol.95 (S259), p.n/a

2017

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A third locus for dominant optic atrophy on chromosome 22q

Journal of medical genetics, 2005-01, Vol.42 (1), p.e1-e1

2005

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Ciliome resequencing: A lifeline for molecular diagnosis in LCA

Cilia (London), 2015-07, Vol.4 (S1), p.P55-P55, Article P55

2015

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Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

American journal of human genetics, 2008-04, Vol.82 (4), p.992-1002

2008

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Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele

Journal of medical genetics, 2003-07, Vol.40 (7), p.e90-90

2003

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Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA)

Investigative ophthalmology & visual science, 2001-05, Vol.42 (6), p.1190-1192

2001

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Signatures mutationnelles des carcinomes épidermoïdes cutanés survenant chez les patients atteints d’épidermolyse bulleuse dystrophique récessive

Annales de dermatologie et de vénéréologie, 2020-12, Vol.147 (12), p.A142-A143

2020

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Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis

American journal of human genetics, 2004-10, Vol.75 (4), p.639-646

2004

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Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

European journal of human genetics : EJHG, 2001-08, Vol.9 (8), p.561-571

2001

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A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

Human genetics, 2007-11, Vol.122 (3-4), p.261-273

2007

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A novel locus for autosomal recessive spastic ataxia on chromosome 17p

Human genetics, 2007-05, Vol.121 (3-4), p.413-420

2007

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Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA

Advances in experimental medicine and biology, 2006, Vol.572, p.15

2006

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A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

European journal of human genetics : EJHG, 2003-12, Vol.11 (12), p.966-971

2003

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The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies

American journal of human genetics, 2002-12, Vol.71 (6), p.1480-1482

2002

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Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)

The journal of gene medicine, 2002-07, Vol.4 (4), p.390-396

2002

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Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Cilia, 2012-11, Vol.1 (S1), p.O28-O28, Article O28

2012

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A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22

Advances in experimental medicine and biology, 2006, Vol.572, p.21

2006

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M - 3 Identification d’une nouvelle forme d’Ataxie Spastique autosomique récessive

Revue neurologique, 2007-04, Vol.163 (4), p.111-111

2007

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Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2)

Advances in experimental medicine and biology, 2003, Vol.533, p.59

2003

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A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

Ophthalmic genetics, 2002-12, Vol.23 (4), p.225-235

2002

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Mitochondria as Novel Players of the Cellular RNA Interference

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

Targeted NGS: an effective approach for molecular diagnosis of hereditary vitreoretinopathies

A third locus for dominant optic atrophy on chromosome 22q

Ciliome resequencing: A lifeline for molecular diagnosis in LCA

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele

Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA)

Signatures mutationnelles des carcinomes épidermoïdes cutanés survenant chez les patients atteints d’épidermolyse bulleuse dystrophique récessive

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22

M - 3 Identification d’une nouvelle forme d’Ataxie Spastique autosomique récessive

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2)

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

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