Results 81 to 90 of about 9,374 (162)

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, Volume 110, Issue 2, Page 165-171, August 2026.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants

Clinical Genetics, Volume 110, Issue 2, Page 203-209, August 2026.
We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph, Esben Søndergaard, Sine Knorr, Jane Hagelskjær Knudsen, Søren Rittig, Jane Hvarregaard Christensen   +5 more
wiley   +1 more source

Autosomal dominant optic atrophy and peripheral neuropathy [PDF]

, 2020
openaire   +1 more source

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

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

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy. [PDF]

Orphanet J Rare Dis
Roberts JP, Tang AF, Hernandez D, Carman B, Oiknine L, Brown C, Hurst S, Tang Y, Urano F.   +8 more
europepmc   +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

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