Results 81 to 90 of about 100,554 (340)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Mutational analysis of βCOP (Sec26p) identifies an appendage domain critical for function

BMC Cell Biology, 2008
Background The appendage domain of the γCOP subunit of the COPI vesicle coat bears a striking structural resemblance to adaptin-family appendages despite limited primary sequence homology.
Cerione Richard A, Hoffman Gregory R, Rahl Peter B, DeRegis Carol J, Collins Ruth N   +4 more
doaj   +1 more source

Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu, Hao Zhang, Chao Gao, Qiuhua Yu, Moli Fan, Lin‐Jie Zhang, Haipeng Zhang, Hengri Cong, Yuzhen Wei, Chotima Böttcher, Alexej Verkhratsky, Friedemann Paul, Fu‐Dong Shi, Tian Song   +13 more
wiley   +1 more source

Tail-like cutaneous appendage at the upper thoracic region with a continuous stalk of limited dorsal myeloschisis

Interdisciplinary Neurosurgery, 2020
Limited dorsal myeloschisis (LDM) is characterized by a fibroneural stalk linking the skin lesion to the underlying spinal cord. LDMs originally have either saccular or nonsaccular (flat) skin lesion; we recently demonstrated the human tail-like ...
Keisuke Abe, Nobutaka Mukae, Takato Morioka, Takafumi Shimogawa, Satoshi O Suzuki, Masahiro Mizoguchi   +5 more
doaj  

Therapeutic Dilemma of Natural Watchman: Congenital Absence of the Left Atrial Appendage

Case Reports in Cardiology, 2018
Congenital absence of the left atrial appendage is a rare congenital cardiac anomaly which is usually an incidental finding. We present a rare case of congenital absence of the left atrial appendage in a 77-year-old female patient with atrial ...
Phoo Pwint Nandar, Asim Kichloo, Thein Tun Aung, Kevin D. Kravitz   +3 more
doaj   +1 more source

Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly.

PLoS Biology, 2006
Adaptor protein complex 2 alpha and beta-appendage domains act as hubs for the assembly of accessory protein networks involved in clathrin-coated vesicle formation. We identify a large repertoire of beta-appendage interactors by mass spectrometry.
Eva M Schmid, Marijn G J Ford, Anne Burtey, Gerrit J K Praefcke, Sew-Yeu Peak-Chew, Ian G Mills, Alexandre Benmerah, Harvey T McMahon   +7 more
doaj   +1 more source

Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono, Satoshi Nozuma, Shota Hirakata, Takashi Yoshida, Daisuke Kodama, Masakazu Tanaka, Eiji Matsuura, Ryuji Kubota, Hiroshi Takashima   +8 more
wiley   +1 more source

Displacement of occluder after left atrial appendage closure: A case report

Clinical Case Reports
Key Clinical Message Atrial fibrillation is closely associated with thrombotic events. In non‐valvular atrial fibrillation, 90% of thrombi are formed by the left atrial appendage.
Yan Lin, Xiaobo Mao
doaj   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck, Jan Voth, Noëmi Gmahl, Konstantin Jendretzky, Niklas Huntemann, Noah M. Werner, Linea Schmidt, Menekse Oeztuerk, Paula Quint, Christina B. Schroeter, Hans Peter Hartung, Thomas Skripuletz, Gerd Meyer zu Hörste, Tobias Ruck, Sven G. Meuth, Marc Pawlitzki   +15 more
wiley   +1 more source