X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

(2012) Ettore Salsano et al.   Orphanet Journal of Rare Diseases

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

(2012) Marc Engelen et al.   Orphanet Journal of Rare Diseases

Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression

(2011) Xuebin Zhang et al.   BIOCHEMICAL JOURNAL

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance

(2011) Stephan Kemp et al.   BRITISH JOURNAL OF PHARMACOLOGY

Adrenoleukodystrophy in female heterozygotes: Underrecognized and undertreated

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

Progression and prognostic factors of motor impairment, disability and quality of life in newly diagnosed Parkinson's disease

(2011) Bart Post et al.   MOVEMENT DISORDERS

Biochemical Aspects of X-Linked Adrenoleukodystrophy

(2010) Stephan Kemp et al.   BRAIN PATHOLOGY

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

(2010) Rob Ofman et al.   EMBO Molecular Medicine

Lovastatin in X-Linked Adrenoleukodystrophy

(2010) Marc Engelen et al.   NEW ENGLAND JOURNAL OF MEDICINE

The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study

(2009) C. Verhamme et al.   BRAIN

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

(2008) Carlo W. T. van Roermund et al.   FASEB JOURNAL

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY