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Joubert syndrome: congenital cerebellar ataxia with the molar tooth

Lancet neurology, 2013-09, Vol.12 (9), p.894-905

2013

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Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

American journal of human genetics, 2015-07, Vol.97 (1), p.177-185

2015

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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

PLoS biology, 2016-03, Vol.14 (3), p.e1002416-e1002416

2016

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Negative Regulation of Mitochondrial Antiviral Signaling Protein–Mediated Antiviral Signaling by the Mitochondrial Protein LRPPRC During Hepatitis C Virus Infection

Hepatology (Baltimore, Md.), 2019-01, Vol.69 (1), p.34-50

2019

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Conventional Protein Kinase C Inhibition Prevents Alpha Interferon-Mediated Hepatitis C Virus Replicon Clearance by Impairing STAT Activation

Journal of Virology, 2004-12, Vol.78 (23), p.12809-12816

2004

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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

American journal of human genetics, 2015-07, Vol.97 (1), p.186-193

2015

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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

Nephrology, dialysis, transplantation, 2020-07, Vol.35 (7), p.1195-1202

2020

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Journal of medical genetics, 2016-09, Vol.53 (9), p.608-615

2016

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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1262-1267

2016

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GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

Neurology. Genetics, 2017-04, Vol.3 (2), p.e143-e143

2017

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Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report

Research in developmental disabilities, 2015-12, Vol.47, p.375-384

2015

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Cognitive, adaptive, and behavioral features in Joubert syndrome

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3115-3124

2016

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Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

Neurogenetics, 2016-07, Vol.17 (3), p.191-195

2016

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C/EBPγ Regulates Wound Repair and EGF Receptor Signaling

Journal of investigative dermatology, 2012-07, Vol.132 (7), p.1908-1917

2012

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.72-72, Article 72

2014

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Atypical childhood-onset neuroaxonal dystrophy in an Indian girl

Journal of pediatric neurosciences, 2019-04, Vol.14 (2), p.90-93

2019

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

eLife, 2015-05, Vol.4, p.e06602-e06602

2015

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A solid quality-control analysis of AB SOLiD short-read sequencing data

Briefings in bioinformatics, 2013-11, Vol.14 (6), p.684-695

2013

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Ex vivo acidic preconditioning enhances bone marrow ckit+ cell therapeutic potential via increased CXCR4 expression

European heart journal, 2013-07, Vol.34 (26), p.2007-2016

2013

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"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

Neurology. Genetics, 2016-04, Vol.2 (2), p.e61-e61

2016

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C/EBP[gamma] Regulates Wound Repair and EGF Receptor Signaling

Journal of investigative dermatology, 2012-07, Vol.132 (7), p.1908

2012

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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.36-36, Article 36

2011

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Joubert syndrome: congenital cerebellar ataxia with the molar tooth

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Negative Regulation of Mitochondrial Antiviral Signaling Protein–Mediated Antiviral Signaling by the Mitochondrial Protein LRPPRC During Hepatitis C Virus Infection

Conventional Protein Kinase C Inhibition Prevents Alpha Interferon-Mediated Hepatitis C Virus Replicon Clearance by Impairing STAT Activation

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report

Cognitive, adaptive, and behavioral features in Joubert syndrome

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

C/EBPγ Regulates Wound Repair and EGF Receptor Signaling

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Atypical childhood-onset neuroaxonal dystrophy in an Indian girl

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

A solid quality-control analysis of AB SOLiD short-read sequencing data

Ex vivo acidic preconditioning enhances bone marrow ckit+ cell therapeutic potential via increased CXCR4 expression

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

C/EBP[gamma] Regulates Wound Repair and EGF Receptor Signaling

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

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