Results 111 to 120 of about 74,410 (305)

THE ANALYSIS OF NYSTAGMUS.

The Lancet, 1913
n ...
openaire   +2 more sources

MINERS' NYSTAGMUS. [PDF]

The Lancet, 1922
n ...
openaire   +2 more sources

Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease

Clinical Genetics, EarlyView.
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Eleni Mavraki, Miriam Elbracht, Nergis Güzel, Thomas Herberhold, Ingo Kurth, Andrea Maier, Larissa Mattern, Carol Saunders, Helen McCullagh, Katrin Õunap, Saskia B. Wortmann, Andre Reis, Lei Zhang, Claes M. Gustafsson, Robert McFarland, Robert W. Taylor   +20 more
wiley   +1 more source

LATENT NYSTAGMUS [PDF]

, 1931
Arnold Sorsby
openalex   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

Clinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, Beatriz Menendez, Philip Giampietro, Ingrid M. Wentzensen, Tzung‐Chien Hsieh, Shu‐ou Shan, Gholson J. Lyon   +10 more
wiley   +1 more source

Nystagmus der Bergleute [PDF]

, 1876
Alfred Graefe
openalex   +1 more source

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, EarlyView.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Status epilepticus in older adults: A critical review

Epilepsia, EarlyView.
Abstract Older adults (≥60 years of age) have the highest incidence of status epilepticus (SE) among adults and experience the highest morbidity and mortality. SE incidence increases with age in adulthood. A recent study from Austria estimated an incidence of 89.6/100 000 and 67.6/100 000 person‐years adjusted for age and sex in women and men aged >60 ...
Matthew R. Woodward, Michael J. Armahizer, Tina I. Wang, Neeraj Badjatia, Emily L. Johnson, Emily J. Gilmore   +5 more
wiley   +1 more source

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome

Epilepsia, EarlyView.
Abstract The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage‐gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with developmental and epileptic encephalopathy‐47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Sébastien Boulogne, Maryline Carneiro, Nicolas Chatron, Bertrand Isidor, Laure Lacan, Gaëtan Lesca, Sylvie Nguyen, Diana Rodriguez, Sabrine Souci, Stéphanie Valence, Laurent Villard, Mathieu Milh, Béatrice Desnous   +17 more
wiley   +1 more source

ATAXIC NYSTAGMUS: A PATHOGNOMONIC SIGN IN DISSEMINATED SCLEROSIS [PDF]

, 1944
Willard S. Harris
openalex   +1 more source