Results 71 to 80 of about 113,489 (310)

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]

, 2020
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C, Baple, E, Baptista, J, Caswell, R, Cunningham, MH, Dean, J, Durigon, R, Durlacher-Betzer, K, Ellard, S, Fernandez Pelayo, U, Grochowski, CM, Gunning, AC, Harel, T, Holt, IJ, Homfray, T, Jones, AWE, Lahiri, N, Lupski, JR, Misra, VK, Muñoz Oreja, M, Parrish, A, Scurr, I, Spinazzola, A, Stals, KL, Strucinska, K, Taylor, RW, Tysoe, C, Wright, CF, Yoon, WH   +28 more
core   +3 more sources

Spinal Tuberculosis with Paraplegia in Pregnancy: a Case Report with Management of Spinal TB in Pregnancy

Journal of Nepal Medical Association, 2015
Spinal tuberculosis leading to paraplegia is uncommon in pregnancy and is a diagnostic and therapeutic challenge. We report a case of tubercular paraplegia presenting at 35 weeks of gestation.
Sushruti Kaushal, Santosh Kumar Dora, Sunil Thakur   +2 more
doaj   +1 more source

JASPAC: Japan Spastic Paraplegia Research Consortium

Brain Science, 2018
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are heterogeneous disorders that involve over 80 causative genes.
K. Koh, H. Ishiura, S. Tsuji, Y. Takiyama   +3 more
semanticscholar   +1 more source

Tissue‐Resident Macrophage‐Derived E3 Ligase SMURF2 Restricts Autoimmune Inflammation by Mediating the Degradation of p‐TBK1

Advanced Science, EarlyView.
Dysregulated Tissue resident macrophage (TRMs) link to autoimmune inflammation. SMURF2 mediates Lys‐27 (K27)‐linked ubiquitination of p‐TBK1 and its degradation, which inhibits CSF1R signaling‐triggered TRM proliferation, thereby restraining the autoimmune inflammation.
Xiang An, Jun Li, Lingling Wang, Chengyuan Li, Zhenpeng Jin, Yushi Yao, Minmin Jiang, Wenlong Lin, Xiaojian Wang   +8 more
wiley   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Investigation of robotics-assisted tilt-table therapy for early-stage rehabilitation in spinal cord injury [PDF]

, 2013
This article provides the outcome of an investigation of robotics-assisted tilt-table therapy for early-stage rehabilitation in spinal cord ...
Allan, David, Coupaud, Sylvie, Craven, Colm, Gollee, Henrik, Purcell, Mariel   +4 more
core   +1 more source

Spinal myoclonus: report of four cases

Arquivos de Neuro-Psiquiatria, 1993
Four cases of spinal myoclonus are described, three males and one female. The mean age was 51 years (28-75 years). The mean time between the onset of the myelopathy and the myoclonic jerks was 4.3 months (1-8 months).
James Pitágoras de Mattos, Ana Lúcia Z. Rosso, Antonio J. V. Carneiro, Sergio Novis   +3 more
doaj   +1 more source

Labiaplasty of bilateral labia minora hypertrophy with recurrent abscesses

Clinical and Experimental Obstetrics & Gynecology, 2021
Background: Labia minora hypertrophy is often overlooked in paraplegic women, here we present a rare case of bilateral labia minora hypertrophy with recurrent abscesses. A 31-year paraplegic woman presented with labia minora hypertrophy. The main patient
Yan-Shijing Zhou, Dan Wu, Han-Dan Xiong, Yong-Le Ruan, Bo Duan   +4 more
doaj   +1 more source

Renal vessel–assisted anastomosis improves the abdominal heart transplant model in rats without bilateral lower limb ischemia

Animal Models and Experimental Medicine, EarlyView.
A modified heterotopic heart transplantation (HTx) in rats was reported to improve the surgical success rate, in which the donor's vessels, the brachiocephalic trunk (BT) and the pulmonary artery (PA), were sutured to the recipient's left renal artery (RA) and left renal vein (RV).
Meng Wang, Wuxia Wang, Xunfeng Zou
wiley   +1 more source