Results 201 to 210 of about 273,790 (308)

Widespread Skin Lesions in an Italian Man

JEADV Clinical Practice, EarlyView.
Rebecca Donadoni, Giulia Merlo, Gabriele Zanardi, Antonio Guadagno, Corrado Cabona, Stefania Artioli, Claudia Micalizzi, Emanuele Cozzani   +7 more
wiley   +1 more source

VPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients

Movement Disorders, EarlyView.
Abstract Background Membrane contact sites are crucial for the exchange of ions or lipids and thus are critical for the function and maintenance of organelles. VPS13A is a membrane‐residing, bridge‐like protein connecting two membranes to enable bulk lipid transfer. Loss‐of‐function mutations in the VPS13A gene cause VPS13A disease.
Dajana Grossmann, Adrian Spranger, Emily Fischer, Johanna W. Schubarth, Jenny Leopold, Hannes Glaß, Sebastian Klicker, My Uyen Dang Thi, Anna Elisabeth Bartalis, Andreas Hermann, Kevin Peikert   +10 more
wiley   +1 more source

Effectiveness of Statins for Oxaliplatin-Induced Peripheral Neuropathy: A Multicenter Retrospective Observational Study. [PDF]

Clin Transl Sci
Takechi K, Kawashiri T, Mine K, Ushio S, Hamano H, Hida N, Momo K, Uchiyama M, Uchida M, Tanaka M, Hidaka N, Yasui H, Ueda M, Fujii R, Hashimoto M, Sakamoto Y, Uyama K, Niimura T, Hanai Y, Tsuboya A, Suzuki K, Kamiyama N, Hagiwara H, Okada N, Zamami Y, Ishizawa K.   +25 more
europepmc   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

The Effect of RAGE-Diaph1 Signaling Inhibition on the Progression of Peripheral Neuropathy in Diabetic Mice. [PDF]

Int J Mol Sci
Zglejc-Waszak K, Korytko A, Kordas B, Pomianowski A, Lewczuk B, Wojtkiewicz J, Wąsowicz K, Babińska I, Mukherjee K, Juranek JK.   +9 more
europepmc   +1 more source

Should Induction Chemotherapy Be Considered First‐Line Therapy for Sinonasal Undifferentiated Carcinoma?

The Laryngoscope, EarlyView.
Daniel X. Ma, Shirley Y. Su, Bobby A. Tajudeen, Edward C. Kuan   +3 more
wiley   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Association between intraneural blood flow of the sciatic nerve, peripheral neuropathies, and foot ulcers in patients with diabetes

Shun‐Ping Chen, Ruoyu Li, Jing Hong, Tingting Ye, Hong Zhu   +4 more
openalex   +1 more source

Neurological Peculiarities of POEMS Syndrome: Experience From a Brazilian University Center

Muscle &Nerve, EarlyView.
ABSTRACT Aim Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome associated with significant neurologic morbidity. Better understanding of the manifestations of this disease is crucial to early diagnosis and improvement of prognosis.
Renan Fabri Rosenstein, Jose Pedro Soares Baima, Thales Dalessandro Meneguin Pereira, Gracia Aparecida Martinez, Carlos Otto Heise, Angelina Maria Martins Lino   +5 more
wiley   +1 more source