Results 141 to 150 of about 125,979 (217)
Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog
Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein +3 more
wiley +1 more source
Use of Dalfampridine in a Young Child with Episodic Ataxia Type 2. [PDF]
Child Neurol Open, 2022 Malamud E, Otallah SI.
europepmc +1 more source
Necrotic adrenal myelolipoma in a geriatric dog
Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.Abstract Adrenal myelolipomas are rare in dogs and usually incidental findings. They appear as hyperechoic, heterogeneous masses on ultrasound and fat‑dominant lesions on computed tomography (CT). An 11‑year‑old Spaniel cross presented with a 2‑day history of diarrhoea, vomiting and polyuria/polydipsia.
Heather Durkin, Sophie Aspinall
wiley +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
A Novel KCNA1 Variant Manifesting as Persistent Limb Myokymia Without Episodic Ataxia. [PDF]
J Clin Neurol, 2022 Shin IJ, Sohn SY, Kim SY, Joo IS.
europepmc +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants. [PDF]
Mov Disord Clin Pract, 2022 Martorell L +3 more
europepmc +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
[Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients]. [PDF]
Rev Neurol, 2023 Alcalá-Torres J +4 more
europepmc +1 more source
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Arachnoid cysts are most commonly asymptomatic and usually do not need any active treatment. Currently, psychiatric symptoms are seldom taken into consideration during treatment evaluations in this patient population. We present this case of a young man who was treated in our hospital for signs of depression.
Ruth Arias‐Hidalgo +5 more
wiley +1 more source