Results 221 to 230 of about 156,351 (339)

Unifying biology of neurodegeneration in lysosomal storage diseases. [PDF]

J Inherit Metab Dis
Ludlaim AM, Waddington SN, McKay TR.
europepmc   +1 more source

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases. [PDF]

Biomedicines, 2022
La Cognata V, Cavallaro S.
europepmc   +1 more source

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

, 2019
Chenxi Yang, Jianyan Pan, Siyuan Linpeng, Zhuo Li, Hu Tan, Lingqian Wu   +5 more
openalex   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Determination of Acid α-Glucosidase Protein: Evaluation as a Screening Marker for Pompe Disease and Other Lysosomal Storage Disorders [PDF]

, 2000
Kandiah Umapathysivam, Alison M. Whittle, Enzo Ranieri, Colleen Bindloss, Elaine M. Ravenscroft, Otto P. van Diggelen, John J. Hopwood, Peter J. Meikle   +7 more
openalex   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Neurological manifestations of lysosomal storage diseases. [PDF]

Ann Med Surg (Lond)
Elendu C, Babawale EA, Babarinde FO, Babatunde OD, Chukwu C, Chiegboka SF, Shode OP, Ngozi-Ibeh JK, Njoku A, Ikokwu MN, Kaka GU, Hassan JI, Fatungase OO, Osifodunrin T, Udoeze CA, Ikeji VI.   +15 more
europepmc   +1 more source

Advancing the Research and Development of Enzyme Replacement Therapies for Lysosomal Storage Diseases. [PDF]

GEN Biotechnol, 2022
Puhl AC, Ekins S.
europepmc   +1 more source

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases [PDF]

, 2010
Machtelt G. Bouwman, Q. Teunissen, Frits A. Wijburg, Gabor E. Linthorst   +3 more
openalex   +1 more source

Clinical and Biological Determinants of Longitudinal Cognitive Function in Patients With GBA1 Variants and Subthalamic Deep Brain Stimulation

Annals of Neurology, EarlyView.
Objective Whether cognitive decline in patients with Parkinson's disease (PD) carrying GBA1 variants is accelerated after subthalamic deep brain stimulation (STN‐DBS) remains controversial. Clarifying long‐term cognitive outcomes is essential for informed decision making.
Moritz A. Loeffler, Philipp Klocke, Isabel Wurster, Stefanie Lerche, Idil Cebi, Thomas Gasser, Alireza Gharabaghi, Kathrin Brockmann, Daniel Weiss   +8 more
wiley   +1 more source