Results 201 to 210 of about 113,489 (310)

Prenatal diagnosis of hereditary spastic paraplegia This article is a US Government work and is in the public domain in the USA.

, 2001
Peter Hedera, Jeffrey A. Williamson, Shirley Rainier, David M. Alvarado, Turgut Tükel, Memnune Yüksel Apak, John K. Fink   +6 more
openalex   +2 more sources

Postural responses during falling with rapid reach-and-grasp balance reaction in patients with motor complete paraplegia [PDF]

, 2007
Kai‐Hsin Lin, T-W Lu, P-P Hsu, S-M Yu, W-S Liao   +4 more
openalex   +1 more source

The Investigation of Genetic and Clinical Features in Patients with Hereditary Spastic Paraplegia in Central-Southern China [PDF]

, 2020
Chen Wang, Yunjian Zhang, Cihao Xu, De Li, Zhijun Liu, Yan Wu   +5 more
openalex   +1 more source

Supersulfide biology and translational medicine for disease control

British Journal of Pharmacology, Volume 183, Issue 1, Page 115-130, January 2026.
Abstract For decades, the major focus of redox biology has been oxygen, the most abundant element on Earth. Molecular oxygen functions as the final electron acceptor in the mitochondrial respiratory chain, contributing to energy production in aerobic organisms. In addition, oxygen‐derived reactive oxygen species including hydrogen peroxide and nitrogen
Uladzimir Barayeu, Tomohiro Sawa, Motohiro Nishida, Fan‐Yan Wei, Hozumi Motohashi, Takaaki Akaike   +5 more
wiley   +1 more source

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

American Journal of Human Genetics, 2019
Mohammad Ali Farazi Fard, A. Rebelo, Elena Buglo, H. Nemati, Hassan Dastsooz, Ina Gehweiler, S. Reich, Jennifer Reichbauer, B. Quintáns, A. Ordóñez-Ugalde, A. Cortese, Steve Courel, Lisa Abreu, Eric H. Powell, M. Danzi, Nicole B Martuscelli, Dana M. Bis-Brewer, F. Tao, F. Zarei, P. Habibzadeh, M. Yavarian, F. Modarresi, Mohammad Silawi, Zahra Tabatabaei, M. Yousefi, H. Farpour, C. Kessler, E. Mangold, X. Kobeleva, I. Tournev, T. Chamova, Amelie J Mueller, T. Haack, M. Tarnopolsky, Z. Gan-Or, G. Rouleau, M. Synofzik, M. Sobrido, A. Jordanova, R. Schüle, S. Zuchner, M. Faghihi   +41 more
semanticscholar   +1 more source

A Rare Variant of Penile Squamous Cell Carcinoma in a Man with Paraplegia [PDF]

, 2018
Daniel C Morse, Jaime A. Tschen, Sirunya Silapunt   +2 more
openalex   +1 more source

Acute coronary syndrome accompanied with flaccid paraplegia: a case report in a 70-year-old patient

, 2023
Mario Špoljarić, Katica Cvitkušić Lukenda, Domagoj Mišković, Kristina Vorkapić, Domagoj Vučić, Krešimir Gabaldo   +5 more
openalex   +1 more source

Diagnostic Yield and Genotype–Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain

European Journal of Neurology, Volume 33, Issue 1, January 2026.
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Lidón Carretero‐Vilarroig, Rafael Sivera, Raquel Baviera, Carmen Espinós, Nuria Muelas, Juan Francisco Vazquez‐Costa, Elena Aller, Luis Bataller, Teresa Jaijo   +8 more
wiley   +1 more source

Genotype-phenotype correlations in 18 European patients with heterozygous <i>KIF1A</i> variants: key considerations for assessing <i>KIF1A</i> variant causality. [PDF]

Front Med (Lausanne)
Uhrova Meszarosova A, Galiart E, Lassuthova P, Kolokotronis K, Seidl B, Musilova A, Peckova A, Takacsova A, Vyhnalkova E, Grecmalova D, Vlckova E, Skutilova V, Steindl K, Rauch A, Stettner GM, Safka Brozkova D.   +15 more
europepmc   +1 more source

Identification of Important and Relevant Functioning‐Based Outcomes for Persons With an Oral Health Condition From the Patient's Perspective

Journal of Oral Rehabilitation, Volume 53, Issue 1, Page 211-235, January 2026.
Overview of the qualitative study “Identification of Important and Relevant Functioning‐Based Outcomes for Persons with an Oral Health Condition from the Patient's Perspective.” The study involved 36 adults with various oral health conditions and used focus groups and interviews analyzed thematically and linked to the ICF framework. Results covered all
C. Lenherr, M. Schimmel, G. Stucki, M. Selb   +3 more
wiley   +1 more source