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Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.
Klouwer FCC, Roosendaal SD, Hollak CEM, Langeveld M, Poll-The BT, Sorge AJV, Wolf NI, Knaap MSV, Engelen M. Klouwer FCC, et al. Orphanet J Rare Dis. 2024 Sep 23;19(1):350. doi: 10.1186/s13023-024-03358-9. Orphanet J Rare Dis. 2024. PMID: 39313810
All adult patients showed a typical MRI pattern involving the thalami and gray matter structures of the pons and midbrain. One patient had a hepatocellular carcinoma at the time of the AMACR deficiency diagnosis and two patients suffered from gallstones. ...
All adult patients showed a typical MRI pattern involving the thalami and gray matter structures of the pons and midbrain. One patien …
Integrated analyses reveal two molecularly and clinically distinct subtypes of H3 K27M-mutant diffuse midline gliomas with prognostic significance.
Stegat L, Eckhardt A, Gocke A, Neyazi S, Pohl L, Schmid S, Dottermusch M, Frank S, Pinnschmidt H, Herms J, Glatzel M, Snuderl M, Schweizer L, Thomas C, Neumann J, Dorostkar MM, Schüller U, Wefers AK. Stegat L, et al. Acta Neuropathol. 2024 Sep 10;148(1):40. doi: 10.1007/s00401-024-02800-3. Acta Neuropathol. 2024. PMID: 39256213 Free PMC article.
DMGs were included in the study if they could be clearly allocated to the spinal cord (n = 31; one patient with an additional sellar tumour), medulla (n = 20), pons (n = 64) or thalamus (n = 33), irrespective of further known characteristics. We then performed global genom …
DMGs were included in the study if they could be clearly allocated to the spinal cord (n = 31; one patient with an additional sellar tumour) …
Acute insomnia as the initial manifestation of Wilson' s disease: A Case Report.
Cheng X, Chen Q, Ma H, Ren Q, Jiao S. Cheng X, et al. Medicine (Baltimore). 2024 Aug 16;103(33):e39380. doi: 10.1097/MD.0000000000039380. Medicine (Baltimore). 2024. PMID: 39151490 Free PMC article.
Cranial magnetic resonance imaging showed extensive lesions in the bilateral putamen and caudate nucleus, pressure area of corpus callosum, midbrain, and pons. Interestingly, rare but characteristic signs of WD, such as "face of the giant panda," were shown in this case. . …
Cranial magnetic resonance imaging showed extensive lesions in the bilateral putamen and caudate nucleus, pressure area of corpus callosum, …
Neurological Wilson's disease without hepatic involvement in an adolescent female.
Kumar N, Mishra R, Rohatgi A, Bargali A. Kumar N, et al. BMJ Case Rep. 2024 Jul 29;17(7):e259598. doi: 10.1136/bcr-2023-259598. BMJ Case Rep. 2024. PMID: 39074939
Contrast-enhanced MRI revealed hyperintensity in bilateral caudate lobes, basal ganglia and pons, indicative of Wilson's disease. Liver function tests and ultrasound were normal while Kayser-Fleischer rings were confirmed by slit lamp examination. ...
Contrast-enhanced MRI revealed hyperintensity in bilateral caudate lobes, basal ganglia and pons, indicative of Wilson's disease. Liv …
Lower in vivo locus coeruleus integrity is associated with lower cortical thickness in older individuals with elevated Alzheimer's pathology: a cohort study.
Engels-Domínguez N, Koops EA, Hsieh S, Wiklund EE, Schultz AP, Riphagen JM, Prokopiou PC, Hanseeuw BJ, Rentz DM, Sperling RA, Johnson KA, Jacobs HIL. Engels-Domínguez N, et al. Alzheimers Res Ther. 2024 Jun 17;16(1):129. doi: 10.1186/s13195-024-01500-0. Alzheimers Res Ther. 2024. PMID: 38886798 Free PMC article.
Evaluation of potential effect modifications by FTP or PiB revealed that lower LC MRI signal intensity was related to lower cortical thickness, particularly in individuals with elevated (EC, IT) FTP or (neocortical) PiB. The latter result was present starting from subthres …
Evaluation of potential effect modifications by FTP or PiB revealed that lower LC MRI signal intensity was related to lower cortical thickne …
2,322 results