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Clinical Genetics
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August 16, 2005
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations
E M Fernandez-Valero, A Ballart, C Iturriaga, et al.
Clinical Rheumatology
|
June 1, 1987
Screening of degradative enzymes from articular cartilage in experimental osteoarthritis
E Vignon, O Gateau, A Martin, et al.
Biochimica Et Biophysica Acta
|
August 19, 1992
Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver
E Goldin, C F Roff, S P Miller, et al.
American Journal of Human Genetics
|
May 3, 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
G Millat, C Marçais, C Tomasetto, et al.
American Journal of Human Genetics
|
September 22, 2001
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
G Millat, K Chikh, S Naureckiene, et al.
Acta Neuropathologica
|
February 4, 1999
Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant
T Pàmpols, M Pineda, M L Girós, et al.
Revue Neurologique
|
January 1, 1994
[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems]
P Le Coz, E Assouline, M T Vanier, et al.
Clinical Genetics
|
May 25, 2013
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island
I Mavridou, M Cozar, S Douzgou, et al.
The Journal of Heredity
|
February 13, 1999
Globoid cell leukodystrophy in cairn and West Highland white terriers
D A Wenger, T Victoria, M A Rafi, et al.
Human Molecular Genetics
|
June 1, 1996
Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
N Fujita, K Suzuki, M T Vanier, et al.
Page
of 16
Search research articles
Search
Showing results (111-120 of 156) with videos related to
Sort By:
Page
of 16
Clinical Genetics
|
August 16, 2005
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations
E M Fernandez-Valero, A Ballart, C Iturriaga, et al.
Clinical Rheumatology
|
June 1, 1987
Screening of degradative enzymes from articular cartilage in experimental osteoarthritis
E Vignon, O Gateau, A Martin, et al.
Biochimica Et Biophysica Acta
|
August 19, 1992
Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver
E Goldin, C F Roff, S P Miller, et al.
American Journal of Human Genetics
|
May 3, 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
G Millat, C Marçais, C Tomasetto, et al.
American Journal of Human Genetics
|
September 22, 2001
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
G Millat, K Chikh, S Naureckiene, et al.
Acta Neuropathologica
|
February 4, 1999
Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant
T Pàmpols, M Pineda, M L Girós, et al.
Revue Neurologique
|
January 1, 1994
[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems]
P Le Coz, E Assouline, M T Vanier, et al.
Clinical Genetics
|
May 25, 2013
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island
I Mavridou, M Cozar, S Douzgou, et al.
The Journal of Heredity
|
February 13, 1999
Globoid cell leukodystrophy in cairn and West Highland white terriers
D A Wenger, T Victoria, M A Rafi, et al.
Human Molecular Genetics
|
June 1, 1996
Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
N Fujita, K Suzuki, M T Vanier, et al.
Page
of 16