Associated Papers
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Tirelli C et al.
Biomolecules, 2024
New variants in Spanish Niemann-Pick type c disease patients.
López de Frutos L et al.
Molecular Biology Reports, 2020
Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
Bountouvi E et al.
Bmc Medical Genetics, 2017
The Spectrum of Niemann-Pick Type C Disease in Greece.
Mavridou I et al.
Jimd Reports, 2017
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.
Mavridou I et al.
Clinical Genetics, 2014
Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid.
Oyama K et al.
The Tohoku Journal of Experimental Medicine, 2006
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM et al.
Clinical Genetics, 2005
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD et al.
Human Mutation, 2003
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
Millat G et al.
American Journal of Human Genetics, 2001
Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.
Elleder M et al.
Virchows Archiv : an International Journal of Pathology, 2001
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
Millat G et al.
American Journal of Human Genetics, 2001
SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C.
Tsukamoto H et al.
Prenatal Diagnosis, 2001
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
Greer WL et al.
American Journal of Human Genetics, 1999
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
Millat G et al.
American Journal of Human Genetics, 1999
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
Greer WL et al.
American Journal of Human Genetics, 1998
[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family].
Elleder M et al.
Casopis Lekaru Ceskych, 1997
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T et al.
Human Genetics, 0
[A case of reticuloendotheliosis (Niemann Pick type diseases)].
Fuentes Olano C
Boletin Medico Del Hospital Infantil De Mexico, 0