Neuroimaging of lipid storage disorders

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

(2011) Todor Arsov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The natural course of gross motor deterioration in metachromatic leukodystrophy

(2011) CHRISTIANE KEHRER et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality

(2011) Kim M. Hemsley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging

(2011) Elin Haf Davies et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Early steps in steroidogenesis: intracellular cholesterol trafficking

(2011) Walter L. Miller et al.   JOURNAL OF LIPID RESEARCH

Neuroimaging Findings in a Brain With Niemann–Pick Type C Disease

(2011) Jei-Yie Huang et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

Brain MRI findings in patients with Fabry disease

(2011) Ricardo C. Reisin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated

(2011) Parastoo Jangouk et al.   MOLECULAR GENETICS AND METABOLISM

Diffusion tensor imaging of white matter tract evolution over the lifespan

(2011) C. Lebel et al.   NEUROIMAGE

Diffusion Tensor Imaging for Evaluation of the Childhood Brain and Pediatric White Matter Disorders

(2011) Jared Isaacson et al.   NEUROIMAGING CLINICS OF NORTH AMERICA

Diagnosis of Sjögren-Larsson Syndrome by Magnetic Resonance Spectroscopy

(2011) Emmanuelle Lagrue et al.   PEDIATRIC NEUROLOGY

A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

(2011) Yasuhiko Tachibana et al.   PEDIATRIC RADIOLOGY

A reappraisal of Gaucher disease-diagnosis and disease management algorithms

(2010) Pramod K. Mistry et al.   AMERICAN JOURNAL OF HEMATOLOGY

Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations

(2010) Chiung-Chih Chang et al.   BMC Neurology

Myelin lesions associated with lysosomal and peroxisomal disorders

(2010) Phyllis L Faust et al.   Expert Review of Neurotherapeutics

Brain imaging in urea cycle disorders

(2010) Andrea Gropman   MOLECULAR GENETICS AND METABOLISM

Teaching NeuroImages: Neuroimaging leads to recognition of previously undiagnosed Fabry disease

(2010) L. Fancellu et al.   NEUROLOGY

White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional study

(2010) M. Walterfang et al.   NEUROLOGY

Diffusion Tensor Imaging Detects Abnormalities in the Corticospinal Tracts of Neonates with Infantile Krabbe Disease

(2009) M.L. Escolar et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Towards understanding the neuronal ceroid lipofuscinoses

(2009) Alfried Kohlschütter et al.   BRAIN & DEVELOPMENT

Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature

(2009) Handan Cakmakci et al.   EUROPEAN JOURNAL OF RADIOLOGY

Selective White Matter Involvement in a Patient with Late Onset Krabbe Disease: MR, MR Spectroscopy, and Diffusion Tensor Study

(2009) Andrea Romano et al.   JOURNAL OF NEUROIMAGING

MR spectroscopy and diffusion tensor imaging of the brain in Sjögren–Larsson syndrome

(2009) P.E. Sijens et al.   MOLECULAR GENETICS AND METABOLISM

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Serial MR Imaging and1H-MR Spectroscopy in Monozygotic Twins with Tay-Sachs Disease

(2009) A. Imamura et al.   NEUROPEDIATRICS

Apparent diffusion coefficient vale of the brain in patients with Gaucher’s disease type II and type III

(2009) Ahmed Abdel Khalek Abdel Razek et al.   NEURORADIOLOGY

Magnetic resonance spectroscopy in pediatric neuroradiology: clinical and research applications

(2009) Ashok Panigrahy et al.   PEDIATRIC RADIOLOGY

Long-term metabolic, endocrine and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease

(2008) J Tolar et al.   BONE MARROW TRANSPLANTATION

What we can do and what we cannot do with fMRI

(2008) Nikos K. Logothetis   NATURE