Results 41 to 50 of about 17,947 (227)

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Walsh & Hoyt: Gaze-Evoked Nystagmus

, 2005
Nystagmus that is induced by turning the eye to an eccentric position in the orbit is called gaze-evoked nystagmus. It is the most common form of nystagmus encountered in clinical practice.
John R. Leigh, MD; Janet C. Rucker, MD
core  

Walsh & Hoyt: Optokinetic Nystagmus

, 2005
It is important to realize that not all nystagmus is ...
John R. Leigh, MD; Janet C. Rucker, MD
core  

A Studied of Opticomyelitis [PDF]

, 1954
I expirienced a patient of Devic's disease in a young woman. The onset of this case is sudden and complain headache, vomiting, Cramp and grip, and then followed visual disturbance and difficulty in walking and ataxia.
Mitsui, Haruya, Haruya Mitsui
core   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Results of Air Caloric and Other Vestibular Tests in Patients with Chronic Otitis Media

, 2009
ObjectivesAir caloric results are supposed to be influenced by anatomic changes of the middle ear. The aims of our study were to evaluate the incidence and characteristics of abnormal air caloric results in patients with unilateral chronic otitis media ...
Jung Eun Shin, Hong Ju Park, Hi Boong Kwak, In-Sik Lee, Yong Soo Jeong, Yeo Jin Lee   +5 more
core   +1 more source

Acute necrosis after Gamma Knife surgery in vestibular schwannoma leading to multiple cranial nerve palsies [PDF]

, 2016
We discuss a rare acute complication after Gamma Knife therapy (Elekta AB, Stockholm, Sweden) in a single patient. A 52-year-old woman presented with vertigo, facial weakness and hearing loss emerging 48hours following Gamma Knife radiosurgery for a ...
van Eck, A T, Horstmann, G A, Kapitza, S, Regli, L, Tarnutzer, A A; https://orcid.org/, Pangalu, A   +5 more
core   +1 more source

Clinical reasoning in feline non‐ambulatory tetraparesis or tetraplegia: Which combination of clinical information is useful?

Veterinary Record, EarlyView.
Abstract Background Non‐ambulatory tetraparesis or tetraplegia in cats may constitute a diagnostic challenge for general practitioners. Therefore, this study aimed to evaluate if clinical variables from signalment, history, clinical examination and basic ancillary tests are associated with underlying diagnoses in cats with non‐ambulatory tetraparesis ...
Guido Bertoldi, Steven De Decker
wiley   +1 more source

Insights from a six‐year hair drug analysis compendium in drug‐facilitated crimes involving vulnerable population cases

Journal of Forensic Sciences, EarlyView.
Abstract Hair analysis is a well‐established matrix in forensic toxicology, offering a valuable alternative or complement to traditional matrices in diverse contexts, including drug‐facilitated crimes (DFC), elder abuse, and accidental exposure in children.
Amandine Fort, Coralie Boudin, Hélène Eysseric‐Guerin, Virginie Scolan, François Paysant, Cloé Scherpereel, Mélissa Revet, Françoise Stanke‐Labesque, Théo Willeman   +8 more
wiley   +1 more source