… A few patients are reported with homozygous or compound heterozygous (Dotti unpublished
data, [99]) NOTCH3 mutations; in these patients, the phenotype is almost always within the …

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to
defective activity of the mitochondrial enzyme sterol 27-hydroxylase. In 1991, sterol 27-…

Cerebral microangiopathies are responsible of a great number of strokes. In the recent years
advances in molecular genetics identified several monogenic conditions involving cerebral …

… Dotti: drafting/revising the manuscript and acquisition of data. Dr. Fain: study concept or design
and … Dotti report no disclosures. Dr. Fain is on the speakers' bureau for and has received …

Chromatin remodeling complexes are known to modify chemical marks on histones or to
induce conformational changes in the chromatin in order to regulate transcription. De novo …

McLeod syndrome is caused by mutations of XK, an X‐chromosomal gene of unknown
function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple …

In contrast to the preponderance of affected males in families with X-linked mental retardation,
Rett syndrome (RTT) is a neurological disorder occurring almost exclusively in females. …

Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose
characteristic features include hyperkinetic movements and abnormal red blood cell morphology. …

Chorea‐acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical
features with Huntington's disease and McLeod syndrome. It is caused by mutations in …

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial
neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to …