Results 91 to 100 of about 17,947 (227)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Peripheral (Vestibular) and Central (Gaze-Evoked) Patterns of Nystagmus in a Single Patient

, 2018
A 55-year-old man experienced episodic vertigo and was diagnosed with Meniere\u27s disease affecting the left ear (based on audiograms and his clinical course) about 1 year prior to presentation.
Roksolyana Tourkevich, MD; Daniel R. Gold, DO
core  

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Vestibular Neuritis with + Head Impulse Test and Unidirectional Nystagmus (Figure 1)

, 2017
Vestibular neuritis is the most common cause of the acute vestibular syndrome, which is characterized by continuous vertigo and spontaneous nystagmus lasting days. It may be mimicked by central causes, including stroke, but in the hands of subspecialists,
Tony Brune, DO; Daniel R. Gold, DO
core  

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Parinaud\u27s Syndrome or Dorsal Midbrain Syndrome

, 1991
Also known as the pretectal, or sylvian aqueduct syndromes, it is characterized by paralysis of upgaze to both saccades and pursuit. In this video, the causes of Parinaud\u27s, along with its signs of large pupils with light-near dissociation, spastic ...
Robert B. Daroff, MD
core  

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel, Gyu S. Lee, Jonathan De Winter, Satoshi Matsuzaki, Abigail Sandoval, Juan Felipe Ramirez, Alice Monticelli, Sukyeong Lee, Rita Horvath, Jan de Bleecker, Stephan Züchner, Kenneth M. Humphries, Jonathan Baets, Wan Hee Yoon   +13 more
wiley   +1 more source

Nicotine Exposure During Pregnancy and Postnatal Cognitive Outcomes: A Systematic Review and Meta‐Analysis

Acta Paediatrica, Volume 115, Issue 7, Page 1413-1428, July 2026.
ABSTRACT Aim Nicotine exposure during pregnancy interferes with critical periods of foetal brain development, disrupting the timing and functioning of neurodevelopment. This systematic review and meta‐analysis aims to evaluate the effect of prenatal nicotine exposure on postnatal cognitive outcomes.
Deimantė Baguckaitė, Judith Covey, Nadja Reissland   +2 more
wiley   +1 more source

Walsh & Hoyt: General Concepts and Clinical Approach

, 2005
This chapter concerns abnormal eye movements that disrupt steady fixation and thereby degrade vision. We now know a good deal about the normal anatomy, physiology, and pharmacology of ocular motor control.
John R. Leigh, MD; Janet C. Rucker, MD
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