Results 91 to 100 of about 2,272,438 (346)

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Wrist Hemiarthroplasty of Irreparable Distal Radius Fracture under Wide-Awake Local Anesthetic and No Tourniquet [PDF]

, 2022
Thomas Apard, Melissa Odoemene, Jules Descamps   +2 more
openalex   +1 more source

Role of Centriolar Matrix and Striated Rootlets in Centriolar Pairing and Orientation During Spermatogenesis in Hydractina echinata [PDF]

, 1985
Transmission electron microscopy of the spermatogenic stages of the hydroid, Hydractinia echinata, reveals a series of complex structural and positional changes in the centrioles of spermatocytes and spermatids.
Kleve, Maurice G.
core   +2 more sources

Real extensions of distal minimal flows and continuous topological ergodic decompositions

, 2012
We prove a structure theorem for topologically recurrent real skew product extensions of distal minimal compact metric flows with a compactly generated Abelian acting group (e.g. $\Z^d$-flows and $\R^d$-flows).
Akin, Atkinson, Auslander, Besicovitch, Bronshtein, de Vries, Egawa, Ellis, Fell, Furstenberg, G. Greschonig, Glasner, Glasner, Glasner, Gottschalk, Greschonig, Holá, Johnson, Keynes, Kuratowski, Lemańczyk, Lemańczyk, Lemańczyk, McMahon, Schmidt   +24 more
core   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

A Giant Cell Tumor of the Distal Femur Managed by Excision and Knee Arthrodesis Using a Custom Made Long Intramedullary Interlocking Nail: A Case Report and Review of the Literature [PDF]

, 2021
Anson Albert Macwan, Saurav Narayan Nanda, Debashish Mishra, Saurabh Tuteja, Bodanapu Sandeep   +4 more
openalex   +1 more source

Mitophagy of damaged mitochondria occurs locally in distal neuronal axons and requires PINK1 and Parkin

Journal of Cell Biology, 2014
The Parkinson’s disease–associated proteins PINK1 and Parkin mediate local mitophagy of dysfunctional mitochondria in distal neuronal axons, abrogating the need for retrograde organelle transport and ensuring rapid neuroprotection.
Ghazaleh Ashrafi, Julia S. Schlehe, M. LaVoie, T. Schwarz   +3 more
semanticscholar   +1 more source

Daratumumab Treatment for Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP): A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune‐mediated neuropathy featuring progressive weakness, sensory deficits, and areflexia. While corticosteroids, intravenous immunoglobulin, and plasmapheresis are effective first‐line immunotherapies, a subset of patients remains treatment‐refractory.
Xueyu Zhang, Jianli Zhao, Xue Zhao, Xiaowei Hu, Zichun Xiao, Jie Wu, Xiaowen Li, Jing Xu, Yu‐Jing Li   +8 more
wiley   +1 more source

TRPM8 Channel Activation Reduces the Spontaneous Contractions in Human Distal Colon [PDF]

, 2020
Antonella Amato, Simona Terzo, Laura Lentini, Pierenrico Marchesa, Flavia Mulè   +4 more
openalex   +1 more source

A comparison between IBEX bone health applied to digital radiographs and dual-energy X-ray absorptiometry at the distal-third and ultra-distal regions [PDF]

, 2023
Ben Lopez, Robert Meertens, Mike Gundry, Paul J. Scott, Ben Crone, Richard McWilliam   +5 more
openalex   +1 more source