Results 131 to 140 of about 23,160 (290)

Batten's disease. [PDF]

British Journal of Ophthalmology, 1980
openaire   +2 more sources

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

Epileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach. [PDF]

Mol Ther Nucleic Acids, 2023
Centa JL, Stratton MP, Pratt MA, Osterlund Oltmanns JR, Wallace DG, Miller SA, Weimer JM, Hastings ML.   +7 more
europepmc   +1 more source

Recent advances in multifunctional soft robots: A materials–structures–systems co‐design perspective for synergistic integration

FlexMat, EarlyView.
Abstract Soft robots, engineered from highly compliant materials, offer superior adaptability and safety in unstructured environments compared to their rigid counterparts. Recent advancements, fueled by bio‐inspiration and material programmability, have led to the rapid co‐evolution of their core modules: actuation, sensing, protection, energy, and ...
Qiulei Liu, Zicao Peng, Chong Sun, Haitao Yang   +3 more
wiley   +1 more source

The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. [PDF]

J Biol Chem, 2023
Relton EL, Roth NJ, Yasa S, Kaleem A, Hermey G, Minnis CJ, Mole SE, Shelkovnikova T, Lefrancois S, McCormick PJ, Locker N.   +10 more
europepmc   +1 more source

Optimization of Multi‐Millet Cookie Formulation Using Mixture Design and Their Physicochemical Characterization

Food Safety and Health, EarlyView.
Sensory‐driven optimization of multi‐millet cookie formulation using RSM. ABSTRACT The effect of the composition of multi‐millet flour on the sensory acceptability of gluten‐free cookies containing xanthan gum as a binding agent was investigated and optimized.
Akash Kumar, Shashi Shekhar Mishra, Rekha Kaushik, Rahul Mehra, Shiv Kumar   +4 more
wiley   +1 more source

Efficacy of dual intracerebroventricular and intravitreal CLN5 gene therapy in sheep prompts the first clinical trial to treat CLN5 Batten disease. [PDF]

Front Pharmacol, 2023
Murray SJ, Wellby MP, Barrell GK, Russell KN, Deane AR, Wynyard JR, Gray SJ, Palmer DN, Mitchell NL.   +8 more
europepmc   +1 more source

Gene Therapy and Battens Disease

Internal Medicine: Open Access, 2017
Late Infantile Neuronal Ceroid Lipofuscinoses is an inherited neurodegenerative condition caused by a mutation in the CLN2 gene that codes for an enzyme, tripeptidyl peptidase I (TPP-1). Deficiencies in TPP-1 lead to protein accumulation within lysosomes and subsequent neuronal death, which produce the clinical features of the disease.
openaire   +1 more source

Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model. [PDF]

Sci Rep, 2023
Knoernschild K, Johnson HJ, Schroeder KE, Swier VJ, White KA, Sato TS, Rogers CS, Weimer JM, Sieren JC.   +8 more
europepmc   +1 more source

Postpartum anemia and maternal wellbeing: A cohort analysis of the WOMAN‐2 trial

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective We examined the association between postpartum anemia and maternal wellbeing in women who gave birth with anemia. Methods We conducted a cohort analysis using secondary data from the WOMAN‐2 trial. Between August 2019 and September 2023, women with moderate or severe anemia who were giving birth vaginally were recruited from ...
The WOMAN‐2 Trial Collaborators, Judith Lieber, Katharine Ker, Folasade Adenike Bello, Rizwana Chaudhri, Kiran Javaid, Aasia Kayani, Mwansa Ketty Lubeya, Projestine Muganyizi, Oladapo Olayemi, Bellington Vwalika, Monica Arribas, Eni Balogun, Amy Brenner, Amber Geer, Poppy Mallinson, Raoul Mansukhani, Danielle Prowse, Haleema Shakur‐Still, Ian Roberts, France Donnay, Racheal Phiri, Tina Lavender, Ghazala Mahmud, Haleema Shakur‐Still, Ian Roberts, Jens Kieckbusch, James Lawrence, Sari Watson, Jane Armitage, Maria Quigley, Olufemi T. Oladapo, Sabaratnam Arulkumaran, Imelda Bates, Rizwana Chaudhri, Bukola Fawole, Katharine Ker, Ian Roberts, Haleema Shakur‐Still, Eni Balogun, Danielle Prowse, Danielle Beaumont, Charlotte Fleming, Monica Arribas, Collette Barrow, Llion Roberts, Amber Geer, Julio Gil Onandia, Madeleine Cargill, Andrew Thayne, Christiana Alao, Petula Buck, Raoul Mansukhani, Tim Collier, Katharine Ker, Mbwana Mohammed, Amy Brenner, Myriam Benyahia, Judith Lieber, Haleema Shakur‐Still, Ian Roberts, Rizwana Chaudhri, Aasia Kayani, Kiran Javaid, Projestine Muganyizi, Alice Kawala, Rose Temba, Oladapo Olayemi, Folasade Adenike Bello, Olujide Okunade, Bellington Vwalika, Aziz‐un‐Nisa Abbasi, Ruqqia Sultana, Shehla Noor, Ansa Islam, Sadia Bibi, Sundus Khan, Wajeeha Khurshid, Shahida Magsi, Basma Zia, Haleema Yasmin, Khadija Bano, Saba Khan, Naheed Fatima, Bushra Sher Zaman, Sohail Mahmood Chaudhry, Shakila Yasmin, Khiaynat Sarwar Hashmi, Nadia Babar, Arif Tajammul, Alia Bashir, Farah Siddique, Fouzia Perveen, Nusrat Shah Kamal, Riffat Jaleel, Sarah Kazi, Aruna Hira, Pushpa Makhija, Syeda Batool Mazhar, Nasira Tasnim, Saera Afghan, Mussarat Batool, Sobia Luqman, Fouzia Kashif, Shaista Hifaz Abro, Javeria Abro, Najma Ghaffar, Rakhshanda Mushtaq, Safia Bibi, Shamsa Humayun, Zohra Khanum, Noreen Akmal, Shamila Ijaz Munir, Aisha Malik, Amna Zia Eusaph, Sofia Manzoor, Khola Yousaf, Misbah Kausar, Yasmeen Waqas, Naila Ehsan, Aisha Siddiqa, Uzma Suhail Afridi, Nosheen Sikandar, Rehana Kamaal, Mehnaz Khakwani, Rashida Perveen, Huma Quddusi, Hajira Masood, Syeda Ali, Asma Akhter, Mubashra Samina, Sana Ishfaque, Rizwana Chaudhri, Humaira Bilqis, Shahid Irshad Rao, Saima Ashraf, Uzma Shaheen, Tayyiba Wasim, Natasha Rasool, Nabeela Waheed, Khansa Iqbal, Shahida Husain Tarar, Rizwana Khalid, Rubina Sohail, Shehla Kanwal, Shagufta Saeed Sial, Humera Noreen, Naila Israr, Shehla Baqai, Asifa Siraj, Luzango Maembe, Julius Nyambarino, Enid Simon Chiwanga, Lazaro Y. Madeha, Francis Ngimwichi Joseph, Evelyne Ludovick, Baya H. Kissiwa, Sangalala Mtingele, Vincent Tarimo, Alfred Secha, Hudson August Manyanga, Idrisa Hussein, Alphonce Moyo, Delila Msigwa, France John Rwegoshora, Delfina Mkenda, Mojisola Mobolaji‐Ojibara, Michael Babalola, Owa Olorunfemi Oludele, Samuel Ojo, Oladipo Aremu, Kehinde Ogundairo, Oyewole Tunde Aremu, Gazaal Rasheedat, Iman Usman, Auwal Shuaibu, Adewale Adeyemi, Olufemi Aworinde, Theresa Irinyenikan, Mwansa Ketty Lubeya, Kenneth Chanda   +180 more
wiley   +1 more source