Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

4H Leukodystrophy: Lessons from 3T Imaging

(2017) Ferdy Cayami et al.   NEUROPEDIATRICS

Quantitative MRI in hypomyelinating disorders

(2016) Marjan E. Steenweg et al.   NEUROLOGY

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

(2015) Inga Harting et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hypomyelinating leukodystrophies: Translational research progress and prospects

(2014) Petra J. W. Pouwels et al.   ANNALS OF NEUROLOGY

Palmoplantar keratosis in oculodentodigital dysplasia with aGJA1point mutation out of the C-terminal region of connexin 43

(2014) Toshiaki Kogame et al.   JOURNAL OF DERMATOLOGY

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

(2013) Ryan J. Taft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures

(2012) Marjan E. Steenweg   ARCHIVES OF NEUROLOGY

Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

(2012) Roberta Biancheri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Novel GJA1 Mutation in Oculodentodigital Dysplasia with Progressive Spastic Paraplegia and Sensory Deficits

(2012) Natsumi Furuta et al.   INTERNAL MEDICINE

Teaching NeuroImages: Oculodentodigital dysplasia: Hypomyelination and syndactyly

(2012) C. Ganos et al.   NEUROLOGY

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

(2011) Michael M. Dos Santos et al.   JOURNAL OF NEUROLOGY

Oculodento-osseous dysplasia: heterogeneity or variable expression?

(2010) P. Brighton et al.   CLINICAL GENETICS

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

(2010) A Jamsheer et al.   CLINICAL GENETICS

Oculo-dento-digital dysplasia: Lack of genotype–phenotype correlation for GJA1 mutations and usefulness of neuro-imaging

(2009) M.J. Alao et al.   European Journal of Medical Genetics

GJA1mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

(2009) William A. Paznekas et al.   HUMAN MUTATION

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY

Expanding the Neurologic Phenotype of Oculodentodigital Dysplasia in a 4-Generation Hispanic Family

(2008) Claudia Amador et al.   JOURNAL OF CHILD NEUROLOGY