Results 171 to 180 of about 26,795 (236)

Lennox–Gastaut syndrome in a patient with biallelic TELO2 variants

open access: yes
Epileptic Disorders, Volume 28, Issue 3, Page 893-896, June 2026.
Melissa Odabassian, Kenneth A. Myers
wiley   +1 more source

Severe Abdominal Pain as a Prominent Clinical Manifestation of Anti‐DPPX Autoimmune Encephalitis: A Case Report and Systematic Review

open access: yesImmunity, Inflammation and Disease, Volume 14, Issue 6, June 2026.
ABSTRACT Background Anti‐dipeptidyl‐peptidase‐like protein 6 encephalitis (DPPXE) is an exceptionally rare form of autoimmune encephalitis characterized by a highly heterogeneous clinical phenotype. Methods In this study, we report a Chinese patient presenting with severe abdominal pain as a prominent symptom; furthermore, we conducted a systematic ...
Difang Shi   +7 more
wiley   +1 more source

An 18-fluorodeoxyglucose-PET study in <i>SGCE</i> positive and negative myoclonus-dystonia. [PDF]

open access: yesBrain Commun
Timmers ER   +6 more
europepmc   +1 more source

Expanding African contributions to ClinVar through genetic counselor‐led variant curation

open access: yesJournal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai   +4 more
wiley   +1 more source

Oropharyngeal Dysphagia Assessment in Behçet Disease Using EAT‐10 and Fiberoptic Endoscopic Evaluation of Swallowing

open access: yesLaryngoscope Investigative Otolaryngology, Volume 11, Issue 3, June 2026.
ABSTRACT Objective To provide a preliminary symptom‐based and standardized single‐consistency FEES screening assessment of swallowing in adults with Behçet disease using the Eating Assessment Tool‐10 (EAT‐10) and fiberoptic endoscopic evaluation of swallowing (FEES).
Emre Demirel   +2 more
wiley   +1 more source

Movement Disorders in Scrub Typhus: A Systematic Review. [PDF]

open access: yesTremor Other Hyperkinet Mov (N Y)
Garg RK   +5 more
europepmc   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

open access: yesClinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern   +4 more
wiley   +1 more source

Chronic lead encephalopathy in an adult: A case report and literature review. [PDF]

open access: yesClin Park Relat Disord
Rim T   +7 more
europepmc   +1 more source

Epilepsia partialis continua as the presenting manifestation of Creutzfeldt–Jakob disease: A video‐polygraphic clinical vignette

open access: yes
Epileptic Disorders, Volume 28, Issue 3, Page 920-924, June 2026.
Roberta Cutellè   +8 more
wiley   +1 more source

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