Article
Biochemistry & Molecular Biology
Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frederic Favreau, Anne-Sophie Lia
Summary: Through analyzing targeted-NGS data of a patient using the CovCopCan bioinformatic tool, we discovered a deletion in the ATL3 gene which may be responsible for the patient's HSN symptoms.
Article
Clinical Neurology
Vivian Pedigone Cintra, Maike F. Dohrn, Pedro Jose Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Teixeira Camargos, Luiz Sergio Mageste Barbosa, Adriana P. Rebelo, Lisa Abreu, Matt Danzi, Wilson Marques, Stephan Zuchner
Summary: Hereditary sensory neuropathies (HSN) are rare neurological disorders with heterogeneous genetic characteristics. A study conducted in Brazil identified pathogenic variants in ATL3, SPTLC2, and SCN9A genes in 12 patients from five unrelated families, contributing to a better understanding of the genetic basis of HSN.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Jingfei Zhang, Hong Wang, Wenjie Liu, Juan Wang, Jing Zhang, Xueli Chang, Shan Huang, Xiaomin Pang, Junhong Guo, Qiuhong Wang, Wei Zhang
Summary: A novel missense mutation c.279G>C (Q93H) in DCTN1 was identified as the candidate loci causing both familial dHMN7B and Perry syndrome, expanding the clinical and pathogenic spectrum of DCTN1 gene.
NEUROLOGICAL SCIENCES
(2021)
Article
Dermatology
Sabine Jaegle, Hao-Hsiang Hsu, Hazem A. Juratli, Andreas D. Zimmer, Amelie Prieschl, Svenja Alter, Bernhard Wiedenhofer, Dieter Metze, Steffen Emmert, Judith Fischer
Summary: By analyzing a cohort of 5 HLP patients, rare variants in the SPTLC1 gene were identified as the genetic cause of HLP. The detected variants were frameshift or splicing variants, leading to reduced SPTLC1 protein levels. Diminished SPTLC1, the key enzyme in sphingolipid biosynthesis, contributes to the development of HLP.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Stephanie Hilton, Matthias Christen, Thomas Bilzer, Vidhya Jagannathan, Tosso Leeb, Urs Giger
Summary: This study describes a clinically mild and slowly progressive muscular dystrophy in a family of Maine Coon crossbred cats. The cats exhibit marked structural changes in their muscles, but protein modeling suggests that the identified gene variant may not have a major impact on protein function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Health Care Sciences & Services
Jihyun Park, So Young Joo, Byung-Ok Choi, Dae-Hyun Kim, Jong Bum Park, Jong Weon Lee, Deog Young Kim
Summary: This study evaluated the characteristics of gait patterns in CMT1A patients and classified them according to disease severity. The results showed significant differences in gait parameters between CMT1A patients and healthy controls, as well as variations in gait patterns within different severity groups.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Clinical Neurology
Sissel Loseth, Helle Hoyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Oivind Nilssen, Geir Julius Braathen
Summary: Loseth et al. describe a new and milder phenotype of hereditary neuropathy associated with a heterozygous mutation in the SLC12A6 gene, inherited over multiple generations. The phenotype in the affected families demonstrated heterogeneity, with some patients having subtle to moderate symptoms and even some individuals having no complaints. The functional characterization of the mutant potassium chloride cotransporter 3 revealed a significant reduction in potassium influx, expanding the spectrum of SLC12A6 disease.
Article
Genetics & Heredity
Shan Tang, Li Bai, Yuan Gao, Wei Hou, Wenyan Song, Hui Liu, Zhongjie Hu, Zhongping Duan, Liaoyun Zhang, Sujun Zheng
Summary: This study reports a case of TFR2-related hemochromatosis in a Chinese individual, and finds that the same gene mutation can lead to different phenotypes. This is of great significance in broadening the spectrum of TFR2 gene mutations.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Antonio Petrucci, Ludovico Lispi, Matteo Garibaldi, Erika Frezza, Francesca Moro, Roberto Massa, Filippo Maria Santorelli
Summary: Mutations in the NEFL gene can cause different phenotypes of CMT diseases with various patterns of transmission. In this study, we identified two new unrelated Italian families with NEFL-related CMT, characterized by childhood onset and features such as impaired gait and reduced sensation. Neurophysiological investigations revealed demyelinating or intermediate forms. Genetic analysis revealed two heterozygous variants in NEFL, one of which acted as a modifier factor associated with axonal nerve damage.
EUROPEAN NEUROLOGY
(2023)
Article
Clinical Neurology
Zhongbo Chen, Reza Maroofian, A. Nazli Basak, Leena Shingavi, Mert Karakaya, Stephanie Efthymiou, Emil K. Gustavsson, Leyla Meier, Kiran Polavarapu, Seena Vengalil, Veeramani Preethish-Kumar, Bevinahalli N. Nandeesh, Nalan Gokce Gunes, Onur Akan, Fatma Candan, Bertold Schrank, Stephan Zuchner, David Murphy, Mahima Kapoor, Mina Ryten, Brunhilde Wirth, Mary M. Reilly, Atchayaram Nalini, Henry Houlden, Payam Sarraf
Summary: Pathogenic variants in PLEKHG5 have been reported in patients with autosomal recessive intermediate Charcot-Marie-Tooth disease and spinal muscular atrophy. The study identified novel biallelic variants in PLEKHG5 in 13 individuals from nine families, showing variable disease severity and age of onset. The findings suggest PLEKHG5-associated neuropathies as an important differential diagnosis in non-5q spinal muscular atrophy cases, expanding the understanding of the disease spectrum.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Genetics & Heredity
Lu Cao, Ruixue Zhang, Liang Yong, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Qi Zhen, Yafen Yu, Xia Hu, Liangdan Sun
Summary: A novel missense mutation in the SASH1 gene was identified as the cause of Dyschromatosis universalis hereditaria (DUH) in a Chinese family. Despite the affected family members having identical mutations, differences in clinical manifestations were observed, highlighting the complexity of phenotype-influencing factors in DUH.
BMC MEDICAL GENOMICS
(2021)
Article
Genetics & Heredity
Yuting Zeng, Yuhua Pan, Jiayao Mo, Zhiting Ling, Lifang Jiang, Fu Xiong, Wenjuan Yan
Summary: A missense mutation in the COL1A1 gene was found to cause a DGI-I phenotype without bone disease, with ultrastructural analysis revealing severe developmental disorder. The use of patient DPSCs for research can help elucidate pathogenesis and develop regenerative therapies.
FRONTIERS IN GENETICS
(2021)
Article
Neurosciences
Matthew R. Sapio, Diana M. King, Ellen S. Staedtler, Dragan Maric, Jahandar Jahanipour, Natalya A. Kurochkina, Allison P. Manalo, Andre Ghetti, Andrew J. Mannes, Michael J. Iadarola
Summary: This study evaluates the expression pattern of a painless neuropathy gene in human tissue and finds that it is widely expressed but not enriched in pain fibers.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Neurosciences
Laura Behrendt, Christian Hoischen, Christoph Kaether
Summary: Mutations in the ER-network forming GTPase atlastin3 (ATL3) can cause axon degeneration of sensory neurons. The mutated ATL3 is excluded from distal axons by a selective barrier at the axon initial segment. Actin-depolymerization partially restores the transport of mutated ATL3 into distal axons.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Multidisciplinary Sciences
Takeshi Yamamotoya, Shun Hasei, Yasuyuki Akasaka, Yukino Ohata, Yusuke Nakatsu, Machi Kanna, Midori Fujishiro, Hideyuki Sakoda, Hiraku Ono, Akifumi Kushiyama, Hidemi Misawa, Tomoichiro Asano
Summary: Loss of Trk-fused gene (TFG) in motor neurons leads to neuromuscular junction (NMJ) degeneration and muscle atrophy, while lack of TFG in muscles may have additional effects. These findings are important for understanding the mechanisms associated with neurodegenerative diseases.
SCIENTIFIC REPORTS
(2022)
Article
Rehabilitation
Gerhard M. Hobusch, Miroslava Cernakova, Stephan E. Puchner, Alexander Kolb, Joannis Panotopoulos, Reinhard Windhager
DISABILITY AND REHABILITATION
(2020)
Article
Radiology, Nuclear Medicine & Medical Imaging
Marcus Raudner, Markus M. Schreiner, Vladimir Juras, Michael Weber, David Stelzeneder, Claudia Kronnerwetter, Reinhard Windhager, Siegfried Trattnig
INVESTIGATIVE RADIOLOGY
(2019)
Article
Medicine, General & Internal
Gerhard Martin Hobusch, Kilian Fellinger, Tobias Schoster, Susanna Lang, Reinhard Windhager, Manuel Sabeti-Aschraf
WIENER KLINISCHE WOCHENSCHRIFT
(2019)
Article
Orthopedics
Mahmoud Elshamly, Katharina Kinslechner, Josef G. Grohs, Daniela Weinmann, Sonja M. Walzer, Reinhard Windhager, Hans-Joachim Gabius, Stefan Toegel
JOURNAL OF ORTHOPAEDIC RESEARCH
(2019)
Article
Orthopedics
Alexander Bumberger, Ulrich Koller, Marcus Hofbauer, Thomas Manfred Tiefenboeck, Stefan Hajdu, Reinhard Windhager, Wenzel Waldstein
KNEE SURGERY SPORTS TRAUMATOLOGY ARTHROSCOPY
(2020)
Article
Orthopedics
R. Windhager, P. Funovics, J. Panotopoulos, G. Hobusch, M. Schinhan
Article
Sport Sciences
Emir Benca, Pejman Ziai, Lena Hirtler, Reinhard Schuh, Shahin Zandieh, Reinhard Windhager
SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS
(2019)
Article
Medicine, General & Internal
Nikolaus Wilhelm Lang, Robert Breuer, Hannes Beiglboeck, Alexandru Munteanu, Stefan Hajdu, Reinhard Windhager, Harald Kurt Widhalm
JOURNAL OF CLINICAL MEDICINE
(2019)
Article
Oncology
Maria Anna Smolle, Michiel van de Sande, Dario Callegaro, Jay Wunder, Andrew Hayes, Lukas Leitner, Marko Bergovec, Per-Ulf Tunn, Veroniek van Praag, Marta Fiocco, Joannis Panotopoulos, Madeleine Willegger, Reinhard Windhager, Sander P. D. Dijkstra, Winan J. van Houdt, Jakob M. Riedl, Michael Stotz, Armin Gerger, Martin Pichler, Herbert Stoeger, Bernadette Liegl-Atzwanger, Josef Smolle, Dimosthenis Andreou, Andreas Leithner, Alessandro Gronchi, Rick L. Haas, Joanna Szkandera
Article
Chemistry, Analytical
Emir Benca, Beatrice Ferrante, Martin Zalaudek, Lena Hirtler, Alexander Synek, Franz M. Kainberger, Reinhard Windhager, Rickard Branemark, Gerhard M. Hobusch, Ewald Unger
Summary: Drilling has minimal impact on bone tissue temperature during osseointegrated implant surgery, while speed influences temperature increase during thread tapping. Increasing the surgery speed does not generate more heat, which can enhance efficiency.
Review
Biochemistry & Molecular Biology
Irene K. Sigmund, Stephan E. Puchner, Reinhard Windhager
Summary: Accurate preoperative diagnosis of periprosthetic joint infections (PJIs) can be challenging, serum parameters such as CRP and ESR are commonly used to distinguish septic from aseptic failure, while novel serum biomarkers are being investigated to find a more specific and accurate diagnostic tool.
Article
Health Care Sciences & Services
Kevin Doering, Kevin Staats, Stephan Puchner, Reinhard Windhager
Summary: Limb salvage surgery for periacetabular malignancies using custom-made implants is technically demanding and associated with a high risk of postoperative complications, but good functional outcomes can often be achieved.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Chemistry, Analytical
Emir Benca, Ivan Zderic, Jan Caspar, Kenneth van Knegsel, Lena Hirtler, Boyko Gueorguiev, Harald Widhalm, Reinhard Windhager, Peter Varga
Summary: This study aimed to investigate the structural characteristics and mechanical behavior of ACL implant fixations through dynamic loading tests. The results showed significant inaccuracies in stiffness and slippage assessment when using machine displacement, while distal graft displacement was the most accurate indicator of graft slippage onset.
Article
Biochemistry & Molecular Biology
Bibiane Steinecker-Frohnwieser, Birgit Lohberger, Stefan Toegel, Reinhard Windhager, Veronika Glanz, Cornelia Kratschmann, Andreas Leithner, Lukas Weigl
Summary: Osteoarthritis is a common degenerative joint disease that causes pain and functional limitations. Physical activity is an effective intervention in alleviating pain and promoting joint function. Dysfunction of mechanosensitive ion channels in chondrocytes plays a crucial role in the progression of OA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Emir Benca, Beatrice Ferrante, Ewald Unger, Andreas Strassl, Lena Hirtler, Rickard Branemark, Reinhard Windhager, Gerhard M. Hobusch
Summary: This study investigated the accuracy and precision in implant positioning using case-specific positioning guides and found that it is feasible to achieve accurate and precise positioning of the implants compared to the preoperative plan with the use of these guides.
MEDICINA-LITHUANIA
(2023)
