Results 231 to 240 of about 366,723 (337)

Transgenic mice neuronally expressing baculoviral p35 are resistant to diverse types of induced apoptosis, including seizure-associated neurodegeneration

, 2000
Veena Viswanath, Zhijin Wu, Carlos Fonck, Qize Wei, Rapee Boonplueang, Julie K. Andersen   +5 more
openalex   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Sleep and Risk of Multiple Sclerosis: Bridging the Gap Between Inflammation and Neurodegeneration via Glymphatic Failure. [PDF]

Brain Sci
Buongiorno M, Tur C, Giraldo DM, Cullell N, Krupinski J, Lanzillo R, Sánchez-Benavides G.   +6 more
europepmc   +1 more source

Expression of human apolipoprotein E3 or E4 in the brains of Apoe-/- mice: isoform-specific effects on neurodegeneration.

, 1999
Manuel Buttini, Matthias Orth, Stefano Bellosta, Hassibullah Akeefe, Robert E. Pitas, Tony Wyss‐Coray, Lennart Mucke, Robert W. Mahley   +7 more
openalex  

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

CSF and blood neuronal injury biomarkers in spinal bulbar muscular atrophy and amyotrophic lateral sclerosis 4. [PDF]

Brain Commun
Shahim P, AlQahtani A, Kokkinis AD, Kazmi N, Ezuma-Ngwu M, Misra J, Harmison G, Benoit N, Jones M, Howe E, Schindler AB, Joe GO, Grunseich C.   +12 more
europepmc   +1 more source

Microglia in neurodegeneration: Molecular aspects [PDF]

, 2001
Peter J. Gebicke‐Haerter
openalex   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Neurodegeneration in Parkinson's disease: are we looking at the right spot? [PDF]

Mol Brain
Rocha GS, Freire MAM, Falcao D, Outeiro TF, Lima RR, Santos JR.   +5 more
europepmc   +1 more source

Poster Session C04: Neurodegeneration

, 2000

openalex   +2 more sources