Results 131 to 140 of about 9,462 (208)

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +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

Late Cognitive or Mood Alterations With ‘Status Cribrosum’ and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare COL4A1 Variants Located Within Exon 23

European Journal of Neurology, Volume 33, Issue 7, July 2026.
We report four unrelated patients carrying rare COL4A1 glycine variants encoded by exon 23 and presenting with late‐onset cognitive and/or psychiatric symptoms. Brain MRI was characterised by a severe cerebral small vessel disease with diffuse white matter hyperintensities and prominent enlargement of basal ganglia perivascular spaces leading to a ...
Hélène Morel, Sophie Dufourd‐Delalande, William Bloch, Mathilde Graber, Sacha Weber, Carla Machado, Thibault Coste, Hugues Chabriat, Elisabeth Tournier‐Lasserve, Stéphanie Guey   +9 more
wiley   +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

A Novel RORA Hinge‐Region Variant in Adult IDDECA With Cerebellar Atrophy and Marked Response to Valproate

European Journal of Neurology, Volume 33, Issue 7, July 2026.
ABSTRACT Objectives To expand the RORA mutational and clinical spectrum by reporting a novel hinge‐region variant associated with an adult progressive phenotype and a marked therapeutic response to valproate. Methods We describe a 61‐year‐old woman with lifelong intellectual disability who developed subacute severe motor deterioration in adulthood ...
V. Busco, G. Di Lazzaro, A. T. Cimmino, F. Bove, L. Saccinto, G. Silvestri, A. R. Bentivoglio   +6 more
wiley   +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

The STAT3‐CCND2 Axis Drives a Proliferative Metaplastic Precursor Population in Gastric Intestinal Metaplasia

Journal of Cellular and Molecular Medicine, Volume 30, Issue 14, July 2026.
ABSTRACT Gastric intestinal metaplasia (GIM) is a crucial precancerous lesion with ill‐defined drivers, and identifying regulators of its early proliferation and reprogramming is key to interception. We integrated epigenomic‐transcriptomic analysis of human GIM and normal tissues, validated targets via dual‐luciferase assay, and mapped cellular ...
Fazhan Li, Huijuan Wen, Feifei Ren, Pengyuan Zheng, Simeng Liu   +4 more
wiley   +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

Common Ophthalmic Conditions in Popular Dog Breeds in Japan: Insights From a Survey of 105 Veterinarians Practicing Ophthalmology

Veterinary Ophthalmology, Volume 29, Issue 4, July 2026.
ABSTRACT Objective To identify commonly presented dog breeds and potentially heritable ophthalmic diseases encountered by veterinarians practicing ophthalmology in Japan. Methods A survey was distributed through the Japanese Society of Comparative and Veterinary Ophthalmology.
Victoria Caballero, Arisu Kobayashi, Yasuyoshi Umeda, Susumu Hirashima, Yuichiro Muramatsu, Mitsuharu Ota, Makoto Yamashita, Yukako Kobayashi, Keiko Miyadera   +8 more
wiley   +1 more source

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source