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A case of spastic paraplegia type 11 with a variation in the SPG11 gene

Egyptian Journal of Medical Human Genetics, 2020-07, Vol.21 (1), p.29, Article 29

2020

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Neuronal migration disorders: from genetic diseases to developmental mechanisms

Trends in Neurosciences, 2000-08, Vol.23 (8), p.352-359

2000

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Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Neurology, 2011-01, Vol.76 (4), p.373-382

2011

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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

Neurology, 1999-07, Vol.53 (2), p.270-270

1999

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LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

Human molecular genetics, 1998-12, Vol.7 (13), p.2029-2037

1998

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Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene

Clinical genetics, 2015-09, Vol.88 (3), p.241-247

2015

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Clinical genetics, 2008-08, Vol.74 (2), p.164-170

2008

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Lis1 and Doublecortin Function with Dynein to Mediate Coupling of the Nucleus to the Centrosome in Neuronal Migration

The Journal of cell biology, 2004-06, Vol.165 (5), p.709-721

2004

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Ndel1 Operates in a Common Pathway with LIS1 and Cytoplasmic Dynein to Regulate Cortical Neuronal Positioning

Neuron (Cambridge, Mass.), 2004-10, Vol.44 (2), p.263-277

2004

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Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons

Neuron (Cambridge, Mass.), 1999-06, Vol.23 (2), p.257-271

1999

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Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes

American journal of human genetics, 2000-09, Vol.67 (3), p.574-581

2000

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CYP2U1 Mutations in Two Iranian Patients with Activity Induced Dystonia, Motor Regression and Spastic Paraplegia

European journal of paediatric neurology, 2016-09, Vol.20 (5), p.782-787

2016

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Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

Annals of neurology, 1999-02, Vol.45 (2), p.146-153

1999

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Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

Clinical genetics, 2015-07, Vol.88 (1), p.95-97

2015

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Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

American journal of human genetics, 2004-12, Vol.75 (6), p.979-987

2004

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Cdk5 Phosphorylation of Doublecortin Ser297 Regulates Its Effect on Neuronal Migration

Neuron (Cambridge, Mass.), 2004-01, Vol.41 (2), p.215-227

2004

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The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

American journal of human genetics, 2004-07, Vol.75 (1), p.82-91

2004

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Multiple Dose-Dependent Effects of Lis1 on Cerebral Cortical Development

The Journal of neuroscience, 2003-03, Vol.23 (5), p.1719-1729

2003

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doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

Cell, 1998-01, Vol.92 (1), p.63-72

1998

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Cortical neuronal migration mutants suggest separate but intersecting pathways

Annual review of cell and developmental biology, 2004-01, Vol.20 (1), p.593-618

2004

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Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes

American journal of medical genetics, 2004-03, Vol.125A (2), p.125-134

2004

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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

Neurology, 2008-02, Vol.70 (7), p.556-565

2008

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DCAMKL1 Encodes a Protein Kinase with Homology to Doublecortin that Regulates Microtubule Polymerization

The Journal of neuroscience, 2000-12, Vol.20 (24), p.9152-9161

2000

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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes

Journal of medical genetics, 2003-12, Vol.40 (12), p.e128-128

2003

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Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

Current opinion in neurology, 2011-04, Vol.24 (2), p.98-105

2011

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A case of spastic paraplegia type 11 with a variation in the SPG11 gene

Neuronal migration disorders: from genetic diseases to developmental mechanisms

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Lis1 and Doublecortin Function with Dynein to Mediate Coupling of the Nucleus to the Centrosome in Neuronal Migration

Ndel1 Operates in a Common Pathway with LIS1 and Cytoplasmic Dynein to Regulate Cortical Neuronal Positioning

Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons

Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes

CYP2U1 Mutations in Two Iranian Patients with Activity Induced Dystonia, Motor Regression and Spastic Paraplegia

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Cdk5 Phosphorylation of Doublecortin Ser297 Regulates Its Effect on Neuronal Migration

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Multiple Dose-Dependent Effects of Lis1 on Cerebral Cortical Development

doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

Cortical neuronal migration mutants suggest separate but intersecting pathways

Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

DCAMKL1 Encodes a Protein Kinase with Homology to Doublecortin that Regulates Microtubule Polymerization

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

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