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1 f their auditory nerve inputs (Blackburn and Sachs, 1990; May et al., 1998).
2 ceptionally clear review article by Brux and Sachs clarified the two-hit model of TRALI pathogenesis.
3 ch as those given by Hofmeister, Errera, and Sachs are developed and evaluated against observed cell
4           In 1927, two neurologists, Bernard Sachs (American, 1858-1944) and Otto Marburg (Austrian,
5 RT groups, and a model recently developed by Sachs and Brenner proposed a mechanism for repopulation
6 d by my neuroscience mentor, the late Eugene Sachs, who summarized them as follows: "[T]he energy in
7         In 1928, an introductory letter from Sachs went out to the international community and, in 19
8                             A new study from Sachs et al (2019) seeks to solve these issues, providin
9 or disease (osteoarthritis, Bankart and Hill-Sachs lesions, subchondral cysts), and evidence of prior
10 biceps tendon tears, cartilage defects, Hill-Sachs lesions, Bankart fractures, and subacromial-subdel
11 ge defects; 93%, 99%, 98%, and 0.94 for Hill-Sachs deformities; 100%, 99%, 99%, and 1.00 for osseous
12                    In this issue of the JCI, Sachs and colleagues provide experimental confirmation o
13 tion, the Nishiyama-Wassermann and Kurdjumov-Sachs relationships between the face-centred cubic and b
14 ng of 3D-printed samples shows the Kurdjumov-Sachs (K-S) orientation relation {111} FCC parallel to {
15 in films, which demonstrate that the Lyddane-Sachs-Teller relation between the optical-phonon eigenfr
16 or hexosaminidase A, which is mutated in Tay Sachs disease, for protein palmitoylthioesterase-1, whic
17                                          Tay-Sachs and Sandhoff diseases are caused by mutations in t
18                                          Tay-Sachs and Sandhoff diseases are lysosomal storage disord
19                                          Tay-Sachs disease (TSD) is a classical glycosphingolipid (GS
20                                          Tay-Sachs disease (TSD) is an autosomal recessive, neurodege
21                                          Tay-Sachs disease (TSD) is an inherited neurological disorde
22                                          Tay-Sachs disease is an inborn lysosomal disease characteriz
23                                          Tay-Sachs disease, an inborn lysosomal disease featuring a b
24 A message in lymphoblasts derived from a Tay-Sachs disease patient homozygous for the common frameshi
25 ssion profiles in cerebral cortex from a Tay-Sachs patient, a Sandhoff disease patient and a pediatri
26 se (requiring a transversion in HBB) and Tay-Sachs disease (requiring a deletion in HEXA); to install
27 M1 gangliosidosis, Sandhoff disease, and Tay-Sachs disease brains.
28 al storage disorders, namely Gaucher and Tay-Sachs disease.
29 lysaccharidosis type IIIB, MPSIIIB), and Tay-Sachs.
30  found in lipid storage diseases such as Tay-Sachs [8].
31  nuclei) reminiscent of the asymptomatic Tay-Sachs model mice.
32          The mouse model of human type B Tay-Sachs disease recently engineered by the targeted disrup
33 atabolic pathway for GM2 in human type B Tay-Sachs patients.
34 n non-functional GM2 accumulates causing Tay-Sachs and Sandhoff diseases.
35  in human cell models of Batten disease, Tay-Sachs disease and cystic fibrosis.
36 A) causes the lysosomal storage disorder Tay-Sachs disease (TSD).
37 n the severe neurodegenerative disorder, Tay-Sachs disease.
38  Mouse models of the GM2 gangliosidoses [Tay-Sachs, late onset Tay-Sachs (LOTS), Sandhoff] and GM1 ga
39                  The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in
40  GM1 gangliosidosis, GM2 gangliosidosis (Tay-Sachs and Sandhoff forms), metachromatic leucodystrophy,
41 ypic consequences of GM2 gangliosidosis, Tay-Sachs and Sandhoff diseases in animal models following s
42  due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) gene
43 orrected the metabolic defect in a human Tay-Sachs fibroblasts cell line in vitro.
44  behavioral manifestations seen in human Tay-Sachs patients.
45 nidase and that their lack of storage in Tay-Sachs and Sandhoff diseases is due to functional redunda
46        Furthermore, as loss of GM2-AP in Tay-Sachs disease prevents degradation of GM2 gangliosides a
47 at a level reported to be therapeutic in Tay-Sachs disease.
48 eurodegenerative conditions that include Tay-Sachs disease, Sandhoff disease, and the GM2 activator d
49            GM2 gangliosidoses, including Tay-Sachs and Sandhoff diseases, are neurodegenerative lysos
50 t lysosomal storage disorders, including Tay-Sachs disease and Gaucher disease, can be accounted for
51  leukocytes from patients with infantile Tay-Sachs disease, including a patient with thermolabile hex
52 xb genes disrupted through interbreeding Tay-Sachs (Hexa-/-) and Sandhoff (Hexb-/-) disease model mic
53 ted with the development of another LSD, Tay-Sachs disease, thus suggesting general applicability of
54 reviously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with v
55 n of the hexb gene (hexb-/-), a model of Tay-Sachs and Sandhoff disease, versus the functionally norm
56  such as brains from this mouse model of Tay-Sachs and Sandhoff disease.
57  in GM2-AP result in an atypical form of Tay-Sachs disease known as variant AB GM2 gangliosidosis.
58 issues of an asymptomatic mouse model of Tay-Sachs disease, a severe human gangliosidosis, indicating
59 e observed results of the mouse model of Tay-Sachs disease, we have purified mouse liver Hex A and He
60 mycin, was evaluated in a mouse model of Tay-Sachs disease.
61 d applied for the amplified detection of Tay-Sachs genetic disorder mutant, with a detection limit of
62 M2 gangliosidoses [Tay-Sachs, late onset Tay-Sachs (LOTS), Sandhoff] and GM1 gangliosidosis have been
63 ographic distribution of the two primary Tay-Sachs disease mutations, with the first being more commo
64  5 years of age in its 2 major subtypes, Tay-Sachs and Sandhoff disease.
65 ystic fibrosis CFDelta508 allele and the Tay-Sachs disease TSD 1278 allele from single heterozygous c
66  platforms are implemented to detect the Tay-Sachs genetic disorder mutant.
67                      However, unlike the Tay-Sachs mice, the Gm2a -/- mice displayed significant stor
68 nition sequence for the analyte DNA (the Tay-Sachs mutant gene), a complementary sequence to the Mg(2
69 ccharidosis phenotype is not seen in the Tay-Sachs or Sandhoff disease model mice or in the correspon
70 ickle cell anemia (SCA) mutations, three Tay-Sachs mutations, eight Gaucher mutations, four mutations
71                                    Thus, Tay-Sachs disease can be caused by the deficiency of either
72 ficiency (also known as the AB variant), Tay-Sachs disease, and Sandhoff disease are the major forms
73                                     When Tay-Sachs mice were treated with N-butyldeoxynojirimycin, th
74 nd intrathecal infusion in children with Tay-Sachs and Sandhoff diseases (six infantile, three juveni
75 imulation, and our model further implies the Sachs Canalization Hypothesis and resolves a dilemma reg