Results 211 to 220 of about 354,424 (374)
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 Abstract Background Both progressive supranuclear palsy (PSP) and multiple system atrophy (MSA) belong to atypical parkinsonian syndromes. It is important to differentiate these diseases accurately. We compared clinical outcomes and cognitive impairments between PSP and MSA. Methods Eighty‐five MSA parkinsonism type (MSA‐P) patients and 76 PSP patients
Peifei Jia +3 more
wiley +1 more source
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron +8 more
wiley +1 more source
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto +52 more
wiley +1 more source
Development of the First Tritiated Tetrazine: Facilitating Tritiation of Proteins
ChemBioChem, Volume 23, Issue 23, December 5, 2022., 2022 A tritiated tetrazine based on a phenyl/pyridyl core structure was successfully radiolabeled with NaBT4 by reducing an aldehyde moiety. The synthon was effectively employed to label an antibody in vitro with pretargeted autoradiography. Abstract Tetrazine (Tz)–trans‐cyclooctene (TCO) ligation is an ultra‐fast and highly selective reaction and it is ...
Natasha Shalina Radjani Bidesi +9 more
wiley +1 more source
Abscesses in the Right Lobe of the Cerebellum: With Caries of the Petrous Bone [PDF]
William T. Budd
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain +11 more
wiley +1 more source
Temporal learning in the cerebellum: The microcircuit model [PDF]
The cerebellum is that part of the brain which coordinates motor reflex behavior. To perform effectively, it must learn to generate specific motor commands at the proper times.
Miles, Coe F., Rogers, David
core +1 more source