Results 191 to 200 of about 9,010,468 (307)

Troponin T and Neurofilament Light Chain Levels as Complementary Biomarkers of Disease Accumulation and Aggressiveness in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a clinically heterogeneous neurodegenerative disease requiring reliable biomarkers to improve patient stratification and trial design. While serum neurofilament light chain (sNfL) reflects neuroaxonal stress and disease aggressiveness, troponin T (TnT) may capture complementary aspects of ...
Julia Sellin, Sofia Waldorf, Janina von der Gablentz, Torsten Grehl, Huelya Nazlican, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Sarah Bernsen   +8 more
wiley   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages. [PDF]

J Med Genet
De Nicolo A, Eccles DM, Aaltonen K, Alhopuro P, Ariansen SL, Biancolella M, Caputo SM, Caron O, Cavalli P, Chiang J, Claes KBM, Cuaresma ECS, de la Hoya M, De Pauw A, Díez O, Domínguez-Valentin M, Ehrencrona H, Fjeldvær MK, Fostira F, Francia MBD, Galego-Carro J, Gómez García EB, Hassan NT, Hauke J, Hirasawa A, Huang X, Ilagan-Cargullo EMH, Imoto I, Jonnagadla S, Karthikeyan M, Kleiblova P, Konstantopoulou I, Kowalik A, Kvist A, Lesueur F, Li ST, López-Fernández A, Machackova E, Martins A, Mensenkamp AR, Momozawa Y, Montalban G, Monteiro ANA, Nevanlinna H, Ngeow J, Palmero EI, Pedersen IS, Que FVF, Santamariña M, Santana Dos Santos E, Singer CF, Siołek M, Solano AR, Soukupova J, Suresh PD, Szczepaniak M, Tan YY, Teo SH, Tham E, Thomassen M, Tsaousis G, Hansen TVO, Vega A, Velasco-Sampedro EA, Wangensteen T, Wappenschmidt B, Yannoukakos D, Yoon SY, Spurdle AB, Radice P.   +69 more
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Germline variants in cancer susceptibility genes among patients with mucosal melanoma. [PDF]

NPJ Genom Med
Amouzegar A, Wu X, Long JP, Chen GW, Wong JW, Prabhakaran S, Little L, Gumbs C, Bota N, Malke J, Simon J, Zhang J, Nagarajan P, Davies MA, Tawbi H, Amaria RN, Oliva ICG, Ikeguchi AP, Su S, Hanna EY, Weiser R, Bednarski B, Sims TT, Mitra D, Wargo J, Gershenwald JE, Scheet P, Yu Y, Huff C, Nelson KC, McQuade JL, Futreal PA.   +31 more
europepmc   +1 more source

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

JAMA Oncology, 2017
B. Bausch, F. Schiavi, Y. Ni, J. Welander, A. Patócs, J. Ngeow, U. Wellner, Angelica Malinoc, E. Taschin, G. Barbon, Virginia Lanza, P. Söderkvist, Adam Stenman, C. Larsson, Fredrika Svahn, Jinlai Chen, Jessica Marquard, M. Fraenkel, M. Walter, M. Peczkowska, A. Prejbisz, B. Jarzab, K. Hasse-Lazar, S. Petersenn, L. Moeller, A. Meyer, N. Reisch, A. Trupka, C. Brase, M. Galiano, S. Preuss, Ping-Ling Kwok, N. Lendvai, Gani Berisha, Ö. Makay, C. Boedeker, G. Weryha, K. Rácz, A. Januszewicz, M. Walz, O. Gimm, G. Opocher, C. Eng, Hartmut P. H. Neumann   +43 more
semanticscholar   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Priming defense by transiently suppressing plant susceptibility genes in ornamental crops: A novel strategy for post-harvest diseases management

Frontiers in Plant Science, 2022
Xintong Liu, Yuling Bai, Zhao Zhang, Zhao Zhang   +3 more
doaj   +1 more source

Identification of immune cell type-specific susceptibility genes in multiple cancers using transcriptome-wide association studies. [PDF]

J Natl Cancer Inst
Qin F, Hua X, Wang X, Zhang H, Choi J, Yang XR, Zhang T, Machiela MJ, Anyaso-Samuel S, Landi MT, Berndt SI, Purdue MP, Albanes D, Zhu B, Brown KM, Shi J, Yu K.   +16 more
europepmc   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source