April 2026 in “Expert Opinion on Biological Therapy” This review discusses prurigo nodularis and reports no new results, emphasizing the need for further research into its pathophysiology and treatment options.
18 citations
,
January 2022 in “Nutrients” This review discusses potential agents, including acetyl-L-carnitine and vitamins, for repurposing in managing chemotherapy-induced peripheral neuropathy and reports no clinical results; the authors emphasize the need for further research.
June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that anti-Ku-positive patients exhibit heterogeneous muscle features, primarily showing a myositis pattern with necrotizing fibers and vacuolar changes, and suggests autophagy may play a significant role in their pathogenesis.
15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
January 2009 in “Journal of the American Academy of Dermatology” This study reports on a patient whose symptoms, including trichoepitheliomas and clinical alopecia, may suggest a new syndrome possibly linked to myasthenia gravis.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used a reporter mouse model to identify and characterize distinct subtypes of dopaminergic neurons in the gut's enteric nervous system, revealing novel populations with potential implications for understanding their roles and vulnerabilities in disease.
135 citations
,
May 2002 in “Anesthesiology” This review examines current knowledge and treatment strategies for complex regional pain syndrome type I in adults, emphasizing clinical aspects and highlighting the lack of consensus on therapeutic approaches, without presenting new clinical findings.
January 2020 in “International Journal of PharmTech Research” This case report describes a patient with untreated lepromatous leprosy developing Lucio's phenomenon, highlighting difficulties in distinguishing it from erythema nodosum leprosum with vasculonecrotic lesions.
80 citations
,
December 1996 in “Pain” This study found that spinal strychnine enhances low threshold tactile responses in cat dorsal horn neurons, which may mirror pain states in humans that are less responsive to opioid treatments.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
54 citations
,
November 1986 in “Journal of the American Academy of Dermatology” This case report identifies a potential new syndrome characterized by trichoepitheliomas and alopecia, which may be associated with myasthenia gravis.
October 2021 in “JAAD Case Reports” This article discusses diabetic gustatory hyperhidrosis as a rare form of autonomic dysfunction linked to severe diabetic neuropathy and nephropathy, noting its impact on social and emotional well-being.
July 2024 in “GLOBAL JOURNAL FOR RESEARCH ANALYSIS” In this case report, a 24-year-old North Indian male with type 1 diabetes mellitus presented with alopecia universalis, illustrating the rare simultaneous occurrence of these autoimmune diseases, which are manifestations of multiple endocrine autoimmune syndrome.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
This article provides no abstract or new findings and focuses on a patient registry related to spasticity care.
January 2019 in “Current research in diabetes & obesity journal” A woman with type 2 diabetes developed alopecia areata, suggesting a link between the two autoimmune conditions.
110 citations
,
January 1995 in “European Journal of Neuroscience” This study found that glycinergic synapses in the rat spinal cord are predominantly associated with gephyrin, though gephyrin may also be present at non-glycinergic synapses.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
42 citations
,
September 2002 in “The Journal of Comparative Neurology” This study found that in the dorsal horn's lamina III, most afferent boutons form synapses with presynaptic boutons immunoreactive for GABA and/or glycine, influencing sensory pathways.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
April 2026 in “ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam)” 1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
January 2016 in “Frontiers in Neurology” This study reported that a clinical nutrition program improved sensory loss and maintained symptom improvements in a 60-year-old man with anti-MAG neuropathy over the course of one year.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
March 2021 in “Der Hautarzt” This review covers the clinical features, pathophysiology, differential diagnoses, and therapeutic options for neuroendocrine paraneoplastic syndromes affecting the skin but reports no new clinical findings.
29 citations
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July 2008 in “British Journal of Dermatology” This case report examines a patient with myasthenia gravis, invasive thymoma, and paraneoplastic pemphigus associated with alopecia areata, notably without the usual mucosal involvement.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
15 citations
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April 2007 in “Journal of child neurology” This case report describes an 11-month-old boy with Menkes disease, highlighting symptoms such as developmental delays and poor therapeutic response due to significant brain and vascular abnormalities.