Search details
1.
Magnetic resonance imaging scoring system of the lower limbs in adult patients with suspected idiopathic inflammatory myopathy.
Neurol Sci
; 2024 Feb 21.
Article
in English
| MEDLINE | ID: mdl-38383748
2.
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
Am J Kidney Dis
; 82(5): 581-596.e0, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37301502
3.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Epilepsia
; 64(8): e170-e176, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37114479
4.
Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Int J Mol Sci
; 24(6)2023 Mar 14.
Article
in English
| MEDLINE | ID: mdl-36982627
5.
Extraglomerular immune complex deposition in lupus nephritis.
Lupus
; 31(1): 19-27, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34911399
6.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33855352
7.
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
J Pediatr Gastroenterol Nutr
; 74(5): e115-e121, 2022 05 01.
Article
in English
| MEDLINE | ID: mdl-35129155
8.
Pulmonary fibrosis in a dog as a sequela of infection with Severe Acute Respiratory Syndrome Coronavirus 2? A case report.
BMC Vet Res
; 18(1): 111, 2022 Mar 22.
Article
in English
| MEDLINE | ID: mdl-35317791
9.
Ultrastructural and Immunohistochemical Diagnosis of a Neonatal Herpes Simplex Virus Infection Presenting as Fulminant Hepatitis: A Case Report.
Adv Exp Med Biol
; 1369: 93-100, 2022.
Article
in English
| MEDLINE | ID: mdl-34302289
10.
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.
Int J Mol Sci
; 23(15)2022 Aug 08.
Article
in English
| MEDLINE | ID: mdl-35955927
11.
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Am J Physiol Gastrointest Liver Physiol
; 320(5): G768-G779, 2021 05 01.
Article
in English
| MEDLINE | ID: mdl-33655764
12.
Morphological study of TNPO3 and SRSF1 interaction during myogenesis by combining confocal, structured illumination and electron microscopy analysis.
Mol Cell Biochem
; 476(4): 1797-1811, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33452620
13.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
J Inherit Metab Dis
; 44(2): 376-387, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32898308
14.
Canine Mammary Carcinoma With Vacuolated Cytoplasm: Glycogen-Rich Carcinoma, a Histological Type Distinct From Lipid-Rich Carcinoma.
Vet Pathol
; 58(1): 63-70, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33205712
15.
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
PLoS Genet
; 14(2): e1007210, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29444077
16.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Am J Hum Genet
; 98(2): 322-30, 2016 Feb 04.
Article
in English
| MEDLINE | ID: mdl-26833330
17.
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
J Med Genet
; 55(11): 753-764, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30120216
18.
A rare case of intracranial extra-axial ependymoma.
Ultrastruct Pathol
; 43(4-5): 216-219, 2019.
Article
in English
| MEDLINE | ID: mdl-31684796
19.
The use of an acellular matrix derived from human dermis for the treatment of full-thickness skin wounds.
Cell Tissue Bank
; 20(2): 183-192, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-30767153
20.
Histological and ultrastructural evaluation of human decellularized matrix as a hernia repair device.
Ultrastruct Pathol
; 42(1): 32-38, 2018.
Article
in English
| MEDLINE | ID: mdl-29192810