Results 191 to 200 of about 187,082 (288)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Divergent Clonal Evolution and Early Dissemination Promote Genetic Heterogeneity of Metastases in Castration-Resistant Prostate Cancer. [PDF]

Cancer Res
Hosseini N, Mannan R, Rebernick RJ, Su F, Wang R, Cao X, Lako A, Mellacheruvu D, Hu J, Alumkal JJ, Reichert ZR, Malik R, Mehra R, Chinnaiyan AM, Cieslik MP.   +14 more
europepmc   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Dual-utility ctDNA in diffuse large B-cell lymphoma: integrated genotyping unveils minimal residual disease dynamics and subtype-specific clonal evolution. [PDF]

BMC Med
Liang JH, Wu YF, Pan SY, Du KX, Ji YL, Zhu LQ, Shen HR, Wu JZ, Yin H, Li Y, Wang L, Li JY, Xu W.   +12 more
europepmc   +1 more source

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Clonal evolution of hematopoietic stem cells after autologous stem cell transplantation. [PDF]

Nat Genet
Uryu H, Saeki K, Haeno H, Kapadia CD, Furudate K, Nangalia J, Spencer Chapman M, Zhang L, Padilla J, Zhao L, Hsu JI, Zhao C, Chen S, Tanaka T, Li Z, Ogata S, Hanache S, Yang H, DiNardo C, Daver N, Pemmaraju N, Jain N, Ravandi F, Zhang J, Song X, Thompson E, Tang H, Little L, Gumbs C, Orlowski RZ, Qazilbash M, Bhalla K, Colla S, Kantarjian H, Kanagal-Shamanna R, Bueso-Ramos C, Nakada D, Al-Atrash G, Molldrem J, Futreal PA, Shpall E, Goodell M, Garcia-Manero G, Takahashi K.   +43 more
europepmc   +1 more source

CAR T‐Cell Therapy in Neurology: A Scoping Review of Neuro‐Oncology, Autoimmune Diseases & Neurotoxicity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chimeric antigen receptor (CAR) T‐cell therapy has been investigated in neurological diseases, encompassing both central nervous system malignancies and autoimmune disorders, thereby extending its application beyond hematological cancers.
Omar Alqaisi, Mohammed Dibas, Patricia Tai, Ala Dibas, Osama Souied, Suhair Al‐Ghabeesh   +5 more
wiley   +1 more source

Interactions between Ploidy and Resource Availability Shape Clonal Evolution in Glioblastoma. [PDF]

Cancer Res
Nowicka Z, Rentzeperis F, Tagal V, Teer JK, Ilter D, Beck RJ, Cole JP, Forero Pinto A, Tejero JD, Scanu E, Veith T, Dominguez-Viqueira W, Maksin K, Carrillo-Perez F, Gevaert O, Xu X, Karreth FA, Abdalah MA, Fiandaca G, Pasetto S, Prabhakaran S, Schultz A, Ojwang' AME, Barnholtz-Sloan JS, Farinhas JM, Gomes AP, Katira P, Andor N.   +27 more
europepmc   +1 more source

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism. [PDF]

J Clin Immunol
Bonet N, Mascaro JM, Hurtado-Navarro L, Angosto-Bazarra D, Callejas-Rubio JL, Clemente D, Souto A, Lima O, Palmou-Fontana N, Baselga E, Jiménez-Treviño S, Remesal A, Andreu-Barasoain M, Fernandez-Dominguez L, Riera-Monroig J, Aparicio M, Garcia-Herrero J, Pesqué D, Sanchez-Calvin MT, Lezana-Rosales JM, Correyero-Plaza M, Garcia-Villalba J, Bolaño V, Peiro S, Diaz M, Vlagea A, Lorca D, Fabregat V, Anton MC, Plaza S, Gonzalez-Granado LI, Postigo C, de Morales JMG, de la Fuente EG, Iglesias E, Gomez-Roman J, Vázquez-Triñanes C, Lopez-Robledillo JC, Ortego-Centeno N, Giménez-Arnau AM, Campistol JM, Laayouni H, de Landazuri IO, Yagüe J, Gonzalez-Roca E, Mensa-Vilaro A, Fornas O, Ramos E, Pelegrin P, Casals F, Arostegui JI.   +50 more
europepmc   +1 more source