相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism
Tania Lopez-Hernandez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Magnetic Resonance Spectroscopy in the Diagnostic Evaluation of Brainstem Lesions in Alexander Disease
James E. Davison et al.
JOURNAL OF CHILD NEUROLOGY (2011)
Aggregating single patient (n-of-1) trials in populations where recruitment and retention was difficult: The case of palliative care
Jane Nikles et al.
JOURNAL OF CLINICAL EPIDEMIOLOGY (2011)
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease
Stephen Zano et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1
Mariana Ferreira et al.
NEUROGENETICS (2011)
Challenging symptom profiles of life-limiting conditions in children: a survey of care professionals and families
Cari Malcolm et al.
PALLIATIVE MEDICINE (2011)
Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation
Miora Feinstein et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Cavitating Leukoencephalopathy in a Child Carrying the MitochondrialA8344GMutation: Fig 1.
R. Biancheri et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2010)
Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
J. H. Harreld et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2010)
Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge
Ingemar Bjorkhem et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
Marjan E. Steenweg et al.
BRAIN (2010)
An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study
Marjan E. Steenweg et al.
HUMAN MUTATION (2010)
Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature
Asif Mahmood et al.
JOURNAL OF CHILD NEUROLOGY (2010)
Childhood-Onset CADASIL: Clinical, Imaging, and Neurocognitive Features
Jessica Hartley et al.
JOURNAL OF CHILD NEUROLOGY (2010)
Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene
Jaime Lin et al.
JOURNAL OF CHILD NEUROLOGY (2010)
APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation
Michael L. Metzker
NATURE REVIEWS GENETICS (2010)
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31
Genevieve Bernard et al.
NEUROGENETICS (2010)
Genotype-phenotype correlation in vanishing white matter disease
H. D. W. van der Lei et al.
NEUROLOGY (2010)
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases
F. Mochel et al.
NEUROLOGY (2010)
A Boy with Developmental Delay and Irritability Infantile Krabbe disease (globoid-cell leukodystrophy)
Kalpathy S. Krishnamoorthy et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Identifying and Managing Sources of Pain and Distress in Children with Neurological Impairment
Julie Hauer
PEDIATRIC ANNALS (2010)
New Case of 4H Syndrome and a Review of the Literature
Simona Orcesi et al.
PEDIATRIC NEUROLOGY (2010)
Characteristic MR spectroscopy in fucosidosis: in vitro investigation
Alex C. Mamourian et al.
PEDIATRIC RADIOLOGY (2010)
Determination of asialotransferrin in the cerebrospinal fluid with the HPLC method
Milan Dastych et al.
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION (2010)
HUMAN GENETICS Affordable 'Exomes' Fill Gaps in a Catalog of Rare Diseases
Jocelyn Kaiser
SCIENCE (2010)
Transplant Outcomes in Leukodystrophies
Paul J. Orchard et al.
SEMINARS IN HEMATOLOGY (2010)
Pediatric Palliative Care
Jeffrey C. Klick et al.
CURRENT PROBLEMS IN PEDIATRIC AND ADOLESCENT HEALTH CARE (2010)
Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism
Robert Steinfeld et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations
F. Eichler et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2009)
Correlation of Neurodevelopmental Features and MRI Findings in Infantile Krabbe's Disease
James M. Provenzale et al.
AMERICAN JOURNAL OF ROENTGENOLOGY (2009)
Pelizaeus-Merzbacher-Like Disease Presentation of MCT8 Mutated Male Subjects
Catherine Vaurs-Barriere et al.
ANNALS OF NEUROLOGY (2009)
Aicardi-Goutieres syndrome
S. Orcesi et al.
BRITISH MEDICAL BULLETIN (2009)
SURF-1 Gene Mutation Associated With Leukoencephalopathy in a 2-Year-Old
Jeremy Timothy et al.
JOURNAL OF CHILD NEUROLOGY (2009)
Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy
Ulrich Matzner et al.
MOLECULAR THERAPY (2009)
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
Marco Henneke et al.
NATURE GENETICS (2009)
Invited Article: An MRI-based approach to the diagnosis of white matter disorders
Raphael Schiffmann et al.
NEUROLOGY (2009)
Phenotypic variability in giant axonal neuropathy
Meriem Tazir et al.
NEUROMUSCULAR DISORDERS (2009)
Massive Hemobilia and Papillomatosis of the Gallbladder in Metachromatic Leukodystrophy: A Life-Threatening Condition
L. Garavelli et al.
NEUROPEDIATRICS (2009)
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient
Osvaldo Alfonso Artigalas et al.
METABOLIC BRAIN DISEASE (2009)
Hypomyelination and congenital cataract: Neuroimaging features of a novel inherited white matter disorder
A. Rossi et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2008)
Metachromatic leukodystrophy: an overview of current and prospective treatments
A. Biffi et al.
BONE MARROW TRANSPLANTATION (2008)
Aicardi-Goutieres syndrome presenting atypically as a sub-acute leukoencephalopathy
S. Orcesi et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)
Infantile neuroaxonal dystrophy: What's most important for the diagnosis?
Ines Carrilho et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)
Lactate detection by MRS in mitochondrial encephalopathy: Optimization of technical parameters
Antonio Jose da Rocha et al.
JOURNAL OF NEUROIMAGING (2008)
Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy
Jayasri Srinivasan et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2008)
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
M. Henneke et al.
NEUROLOGY (2008)
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
T. A. Briggs et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation:: A 13-year follow-up
Maria Goerg et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Hypomyelination with atrophy of the basal ganglia and cerebellum -: Follow-up and pathology
M. S. van der Knaap et al.
NEUROLOGY (2007)
Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleukodystrophy
Donald Beam et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2007)
Gabapentin successfully manages chronic unexplained irritability in children with severe neurologic impairment
Julie M. Hauer et al.
PEDIATRICS (2007)
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27
B. A. Neubauer et al.
NEUROLOGY (2006)
Peripheral neuropathy in Krabbe disease - Electrodiagnostic findings
Zaeem A. Siddiqi et al.
NEUROLOGY (2006)
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
Mireia del Toro et al.
ANNALS OF NEUROLOGY (2006)
Vanishing white matter disease
MS van der Knapp et al.
LANCET NEUROLOGY (2006)
Alexander disease - Ventricular garlands and abnormalities of the medulla and spinal cord
MS van der Knaap et al.
NEUROLOGY (2006)
Adrenoleukodystrophy - New approaches to a neurodegenerative disease
HW Moser et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2005)
Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice
Y Kondo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Progressive cavitating leukoencephalopathy: A novel childhood disease
S Naidu et al.
ANNALS OF NEUROLOGY (2005)
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil
HW Moser et al.
ARCHIVES OF NEUROLOGY (2005)
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease
ML Escolar et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
NI Wolf et al.
NEUROLOGY (2005)
Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening
P Dubey et al.
JOURNAL OF PEDIATRICS (2005)
White matter involvement in mitochondrial diseases
T Lerman-Sagie et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Krabbe disease - Neurophysiologic studies and MRI correlations
AM Husain et al.
NEUROLOGY (2004)
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999
C Peters et al.
BLOOD (2004)
Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
DJ Loes et al.
NEUROLOGY (2003)
Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice
S Benhamida et al.
MOLECULAR THERAPY (2003)
eIF2B-related disorders: Antenatal onset and involvement of multiple organs
MS van der Knaap et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Finding genes that underlie complex traits
AM Glazier et al.
SCIENCE (2002)
分享论文
