Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology

Time-course of myelination and atrophy on cerebral imaging in 35 patients withPLP1-related disorders

(2016) Catherine Sarret et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Hypomyelinating disorders: An MRI approach

(2016) A. James Barkovich et al.   NEUROBIOLOGY OF DISEASE

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

(2015) Tojo Nakayama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3

(2015) Katherine G. Langley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics

(2015) Yuki Miyamoto et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Hypomyelination and developmental delay associated withVPS11mutation in Ashkenazi-Jewish patients

(2015) Shimon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Disease specific therapies in leukodystrophies and leukoencephalopathies

(2015) Guy Helman et al.   MOLECULAR GENETICS AND METABOLISM

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

(2015) Sumit Parikh et al.   MOLECULAR GENETICS AND METABOLISM

Case definition and classification of leukodystrophies and leukoencephalopathies

(2015) Adeline Vanderver et al.   MOLECULAR GENETICS AND METABOLISM

Thyroid hormone transporters—functions and clinical implications

(2015) Juan Bernal et al.   Nature Reviews Endocrinology

Connexins in neurons and glia: targets for intervention in disease and injury

(2015) John O′Brien et al.   Neural Regeneration Research

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

(2015) Isabelle Thiffault et al.   Nature Communications

Mutations inRARScause hypomyelination

(2014) Nicole I. Wolf et al.   ANNALS OF NEUROLOGY

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

(2014) Eline M. Hamilton et al.   BRAIN

Thyroid hormone transporters in the human

(2014) Olga Karapanou et al.   Hormones-International Journal of Endocrinology and Metabolism

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

(2014) N. I. Wolf et al.   NEUROLOGY

TUBB4A de novo mutations cause isolated hypomyelination

(2014) A. Pizzino et al.   NEUROLOGY

Pelizaeus-Merzbacher disease: Cellular pathogenesis and pharmacologic therapy

(2014) Tomohiro Torii et al.   PEDIATRICS INTERNATIONAL

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Inherited defects in thyroid hormone cell-membrane transport and metabolism

(2013) Jiao Fu et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Delayed myelination is not a constant feature of Allan–Herndon–Dudley syndrome: Report of a new case and review of the literature

(2013) Sara Azzolini et al.   BRAIN & DEVELOPMENT

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation

(2013) Yline Capri et al.   HUMAN MUTATION

Depletion of Molecular Chaperones from the Endoplasmic Reticulum and Fragmentation of the Golgi Apparatus Associated with Pathogenesis in Pelizaeus-Merzbacher Disease

(2013) Yurika Numata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum

(2013) Yuki Miyamoto et al.   JOURNAL OF CLINICAL NEUROSCIENCE

GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease

(2013) Leo Gotoh et al.   MOLECULAR GENETICS AND METABOLISM

Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation

(2012) W. Edward Visser et al.   CLINICAL ENDOCRINOLOGY

Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency

(2012) Charles F. Verge et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Functional Specialization in Proline Biosynthesis of Melanoma

(2012) Jessica De Ingeniis et al.   PLoS One

AIMP1/p43 Mutation and PMLD

(2011) Roberta Biancheri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD

(2011) Miora Feinstein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

(2011) Geneviève Bernard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD

(2011) Odile Boespflug-Tanguy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomyelination and Congenital Cataract

(2011) Roberta Biancheri   ARCHIVES OF NEUROLOGY

Misalignment of PLP/DM20 Transmembrane Domains Determines Protein Misfolding in Pelizaeus-Merzbacher Disease

(2011) A. S. Dhaunchak et al.   JOURNAL OF NEUROSCIENCE

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

(2010) Miora Feinstein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

(2010) Marjan E. Steenweg et al.   BRAIN

Tumoral and tissue-specific expression of the major human β-tubulin isotypes

(2010) Luis J. Leandro-García et al.   Cytoskeleton

Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

(2010) Caterina Di Cosmo et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease

(2010) M. Henneke et al.   NEUROLOGY

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

(2009) Catherine Vaurs-Barrière et al.   ANNALS OF NEUROLOGY

Importance of Monocarboxylate Transporter 8 for the Blood-Brain Barrier-Dependent Availability of 3,5,3′-Triiodo-l-Thyronine

(2009) Ainhoa Ceballos et al.   ENDOCRINOLOGY

Consequences of Monocarboxylate Transporter 8 Deficiency for Renal Transport and Metabolism of Thyroid Hormones in Mice

(2009) Marija Trajkovic-Arsic et al.   ENDOCRINOLOGY

MSC p43 required for axonal development in motor neurons

(2009) X. Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

(2008) Daniella Magen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

(2008) W. Edward Visser et al.   HUMAN MUTATION

Pediatric neurodegenerative white matter processes: leukodystrophies and beyond

(2008) Jonathan A. Phelan et al.   PEDIATRIC RADIOLOGY