Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

…, A Recchia, C Wiessner, A RaasRothschild… - Movement …, 2011 - Wiley Online Library
Parkinson's disease is associated with mutations in the glucocerebrosidase gene, which result
in the enzyme deficiency causing Gaucher disease, the most common lysosomal storage …

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related …

…, HD Hove, S Price, A RaasRothschild… - American journal of …, 2015 - Wiley Online Library
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly
associated with orthopedic, ocular, and hearing problems. However, the frequency of …

Identification of the gene causing mucolipidosis type IV

…, Z Olender, M Zeigler, A Frumkin, A Raas-Rothschild… - Nature …, 2000 - nature.com
Mucolipidosis type IV (MLIV) is an autosomal recessive, neurodegenerative, lysosomal storage
disorder 1 characterized by psychomotor retardation and ophthalmological abnormalities …

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

…, K Elbedour, R Riise, A Baldi, A Raas-Rothschild… - Nature …, 2001 - nature.com
Bardet–Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive
disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, …

[PDF][PDF] Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

R Abou Jamra, O Philippe, A Raas-Rothschild… - The American Journal of …, 2011 - cell.com
Intellectual disability inherited in an autosomal-recessive fashion represents an important
fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these …

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

…, T Lübke, B Henrissat, R Bargal, A Raas-Rothschild… - Nature medicine, 2005 - nature.com
Mucolipidosis II (ML II) is a fatal lysosomal storage disorder resulting from defects in the
multimeric GlcNAc-1-phosphotransferase responsible for the initial step in the generation of the …

[HTML][HTML] Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

A Raas-Rothschild, V Cormier-Daire… - The Journal of …, 2000 - Am Soc Clin Investig
Mucolipidosis IIIC, or variant pseudo-Hurler polydystrophy, is an autosomal recessive disease
of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, …

[HTML][HTML] TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome

…, JW Innis, ME Pierpont, A Raas-Rothschild… - Pediatric …, 2005 - nature.com
Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized
by congenital heart disease (CHD) and upper limb deformity, and caused by mutations in the …

[PDF][PDF] Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

F Molinari, A Raas-Rothschild, M Rio… - The American Journal of …, 2005 - cell.com
Severe neonatal epilepsies with suppression-burst pattern are epileptic syndromes with either
neonatal onset or onset during the first months of life. These disorders are characterized …

[PDF][PDF] Null leukemia inhibitory factor receptor (LIFR) mutations in Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome

…, A Godard, J Martinovic, A Raas-Rothschild… - The American Journal of …, 2004 - cell.com
Stüve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized
by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened …