Results 121 to 130 of about 9,451 (197)

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1063-1071, August 2026.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Autosomal dominant optic atrophy and cataract [PDF]

, 2020
openaire   +1 more source

Biomarker‐Based Diagnosis and Care Pathways for Alzheimer's Disease in the Era of Disease‐Modifying Treatments: A Consensus Statement by Belgian Experts

European Journal of Neurology, Volume 33, Issue 8, August 2026.
ABSTRACT Background The recent approval of disease‐modifying therapies (DMTs) for early Alzheimer's disease (AD) marks a major shift in clinical practice. Biomarker confirmation of amyloid pathology is now required alongside clinical assessment, and blood‐based tests are improving accessibility.
Tim Van Langenhove, Sara Van Mossevelde, Marijke Miatton, Jan De Lepeleire, Rose Bruffaerts, Jean Christophe Bier, Kurt Segers, Jurn Verschraegen, Mirko Petrovic, Manfredi Ventura, Haroun Jedidi, Ingo Beyer, Eric Mormont, Rik Vandenberghe, Aline Delva, Christian Gilles, Donatienne Van Weehaeghe, Gaëtane Picard, Peter De Deyn, Mélanie Strauss, Evert Thiery, Eric Salmon, Gert Cypers, Joris Vlaemynck, Katrin Gillis, Jan Versijpt, Maria Bjerke, Anne Sieben, Bernard Hanseeuw, Sebastiaan Engelborghs, Olivier Deryck, on behalf of the BeDeCo members   +31 more
wiley   +1 more source

Autosomal dominant optic atrophy and peripheral neuropathy [PDF]

, 2020
openaire   +1 more source

Presentation of Bilateral Optic Disc Coloboma-Morning Glory Syndrome in Mother and Son, with Retinitis Pigmentosa in the Father. [PDF]

Turk J Ophthalmol
İslambekov Y, Çakır B, Ateş K.
europepmc   +1 more source

Etiologic spectrum and predictors of visual acuity in non-glaucomatous optic atrophy. [PDF]

SAGE Open Med
Sharifi M, Zand A, Sharifi M, Sharifi A.
europepmc   +1 more source

Autosomal dominant optic atrophy plus syndrome [PDF]

, 2020
openaire   +1 more source

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. [PDF]

Neurol Sci
Errichiello G, Bernardo P, Acquaviva F, Troisi S, Rosa M, Bargiacchi G, Esposito F, Rubino A, Carotenuto M, Varone A, D'Acunto L.   +10 more
europepmc   +1 more source

Autosomal dominant optic atrophy, classic form [PDF]

, 2020
openaire   +1 more source

Rhesus macaques with an <i>OPA1</i> mutation demonstrate features of autosomal dominant optic atrophy. [PDF]

Proc Natl Acad Sci U S A
Jaggers TN, Ripolles-Garcia A, Moshiri A, Story BD, Wang J, Chen R, Moore LG, Teixeira LBC, Shim J, Raposo AC, Casanova MI, Le SM, Park S, Young LJ, Kim S, Roszak KP, Ureno V, Karpinen PM, Echeverria N, Ardon M, Leonard BC, Knipe M, Bliss-Moreau E, Fortune B, Stout JT, Rogers J, Marsh-Armstrong N, Thomasy SM.   +27 more
europepmc   +1 more source