The nephrologist's dilemma: to biopsy or not to biopsy? [PDF]
Nephrology Dialysis Transplantation, 1997 Chew, C. +4 more
openaire +4 more sources
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu +13 more
wiley +1 more source
Rectal Biopsy in Ulcerative Colitis and Regional Enteritis
, 1957 Moshe B. Goldgraber +2 more
openalex +1 more source
Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent‐Onset Cognitive Impairment
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Immunofluorescence for phosphorylated alpha‐synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent‐onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow‐up clinical re‐evaluation.
Alessandro Furia +13 more
wiley +1 more source
A Rapid and Simple Method for Obtaining Punch Biopsies without Anesthesia*
, 1951 Frederick Urbach, Walter B. Shelley
openalex +1 more source
A Guided and Guarded Trephine for Bone-marrow Biopsy [PDF]
, 1958 R. A. Hickling
openalex +1 more source
Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay +12 more
wiley +1 more source
To Biopsy, or Not to Biopsy: Is There Really a Question? [PDF]
Annals of Surgical Oncology, 2019 Chandrajit P. Raut +3 more
openaire +3 more sources
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source