Childhood leukodystrophies: a clinical perspective

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

(2011) Tania López-Hernández et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Magnetic Resonance Spectroscopy in the Diagnostic Evaluation of Brainstem Lesions in Alexander Disease

(2011) James E. Davison et al.   JOURNAL OF CHILD NEUROLOGY

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

(2011) Mariana Ferreira et al.   NEUROGENETICS

Challenging symptom profiles of life-limiting conditions in children: a survey of care professionals and families

(2011) Cari Malcolm et al.   PALLIATIVE MEDICINE

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

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

Cavitating Leukoencephalopathy in a Child Carrying the MitochondrialA8344GMutation: Fig 1.

(2010) R. Biancheri et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Trichothiodystrophy with Dysmyelination and Central Osteosclerosis

(2010) J.H. Harreld et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge

(2010) Ingemar Björkhem et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

(2010) Marjan E. Steenweg et al.   BRAIN

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

(2010) Marjan E. Steenweg et al.   HUMAN MUTATION

Childhood-Onset CADASIL: Clinical, Imaging, and Neurocognitive Features

(2010) Jessica Hartley et al.   JOURNAL OF CHILD NEUROLOGY

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene

(2010) Jaime Lin et al.   JOURNAL OF CHILD NEUROLOGY

Aggregating single patient (n-of-1) trials in populations where recruitment and retention was difficult: The case of palliative care

(2010) Jane Nikles et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease

(2010) Stephen Zano et al.   MOLECULAR GENETICS AND METABOLISM

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31

(2010) Geneviève Bernard et al.   NEUROGENETICS

Genotype-phenotype correlation in vanishing white matter disease

(2010) H. D. W. van der Lei et al.   NEUROLOGY

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

(2010) F. Mochel et al.   NEUROLOGY

Massive Hemobilia and Papillomatosis of the Gallbladder in Metachromatic Leukodystrophy: A Life-Threatening Condition

(2010) L. Garavelli et al.   NEUROPEDIATRICS

Case 3-2010

(2010) Kalpathy S. Krishnamoorthy et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identifying and Managing Sources of Pain and Distress in Children with Neurological Impairment

(2010) Julie Hauer   PEDIATRIC ANNALS

New Case of 4H Syndrome and a Review of the Literature

(2010) Simona Orcesi et al.   PEDIATRIC NEUROLOGY

Characteristic MR spectroscopy in fucosidosis: in vitro investigation

(2010) Alex C. Mamourian et al.   PEDIATRIC RADIOLOGY

Determination of asialotransferrin in the cerebrospinal fluid with the HPLC method

(2010) Milan Dastych et al.   SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION

Affordable 'Exomes' Fill Gaps in a Catalog of Rare Diseases

(2010) J. Kaiser   SCIENCE

Pediatric Palliative Care

(2010) Jeffrey C. Klick et al.   Current Problems in Pediatric and Adolescent Health Care

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations

(2009) F. Eichler et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

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

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

Aicardi-Goutieres syndrome

(2009) S. Orcesi et al.   BRITISH MEDICAL BULLETIN

SURF-1 Gene Mutation Associated With Leukoencephalopathy in a 2-Year-Old

(2009) Jeremy Timothy et al.   JOURNAL OF CHILD NEUROLOGY

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature

(2009) Asif Mahmood et al.   JOURNAL OF CHILD NEUROLOGY

Lactate Detection by MRS in Mitochondrial Encephalopathy: Optimization of Technical Parameters

(2009) Antônio José da Rocha et al.   JOURNAL OF NEUROIMAGING

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient

(2009) Osvaldo Alfonso Artigalás et al.   METABOLIC BRAIN DISEASE

Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy

(2009) Ulrich Matzner et al.   MOLECULAR THERAPY

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

(2009) Marco Henneke et al.   NATURE GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

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

(2009) R. Schiffmann et al.   NEUROLOGY

Phenotypic variability in giant axonal neuropathy

(2009) Meriem Tazir et al.   NEUROMUSCULAR DISORDERS

Transplant Outcomes in Leukodystrophies

(2009) Paul J. Orchard et al.   SEMINARS IN HEMATOLOGY

Correlation of Neurodevelopmental Features and MRI Findings in Infantile Krabbe's Disease

(2008) James M. Provenzale et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Metachromatic leukodystrophy: an overview of current and prospective treatments

(2008) A Biffi et al.   BONE MARROW TRANSPLANTATION

Aicardi–Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

(2008) S. Orcesi et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

(2008) Inês Carrilho et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy

(2008) Jayasri Srinivasan et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder

(2007) A. Rossi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY