Results 171 to 180 of about 5,402,695 (310)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

The Treatment of Pembrolizumab-Induced Pruritus with Topical Roflumilast Cream 0.3% Once Daily. [PDF]

J Clin Aesthet Dermatol
Lomax L.
europepmc   +1 more source

Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall, Kimberly Kwei, Rolando J. Acosta, Bharatkumar Koyani, Erin Robertson, Pratyush Rai, Roland Barge, Emily Timm, Nicollette L. Purcell, Natasha Desai, Dhanesh Patel, Ana‐Maria Visoiu‐Knapp, Samuel Stuart, Rinol Alaj, Matthew F. Wipperman, Oren Levy, Joan A. O'Keefe   +16 more
wiley   +1 more source

The Legacy We Lead: Honoring Our Past While Shaping the Future. [PDF]

Nurs Adm Q
D'Alfonso J.
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Shaping the Future of Health Care: The Story of Kaiser Permanente's Evolving Scholars Academy. [PDF]

Nurs Adm Q
Sohal J, Gizzo D, Murray T, Soriano R, Yun A.   +4 more
europepmc   +1 more source

Conscience Project Meeting 12-05-09 [PDF]

, 2009
Galvin, Matthew R.
core   +1 more source

Studying Mamluk Historiography – From Source-Criticism to the Cultural Turn [PDF]

, 2013
Afsaruddin Asma, Al-Qadi Wadad, Amad, Auchterlonie Paul, Azmeh, Bauden, Bauden Frederic, Bauden Frederic, Bauden Frederic, Bauden Frederic, Bauden Frederic, Bauden Frederic, Bauer Thomas, Bauer Thomas, Bazerman Charles, Berkey Jonathan, Bianquis Thierry, Bloom Jonathan, Bughyat, Bughyat, Bulliet Richard, Chamberlain Michael, Cheddadi Abdesselam, Clifford Winslow, Conermann, Dalil-Essakali Mohyeddine, Donner El-Hibri, Donner Fred, Eichhorn Kate, Elad Amikam, Foucault Michel, Franz Kurt, Gagnier, Gagnier John, Guo, Guo Li, Guo Li, Guo Syrian, Görke, Haarmann Little, Haarmann Ulrich, Haarmann Ulrich, Haarmann Ulrich, Heidemann, Heidemann Stefan, Hirschler Konrad, Ibn ajar Amad, Irwin Robert, Leder Stefan, Leder Stefan, Lev Yacov, Little Donald, Little Donald, Martel-Thoumian Bernadette, Meinecke Michael, Milwright Marcus, Morray David, Muammad, Muammad, Muammad, Muammad, Muammad, Muammad, Muammad, Muammad C., Muammad M., Muh alab, Nawas John, Perho Irmeli, Petry Carl F, Petry Carl F, Radtke Bernd, Rahim Mohamed, Rapoport Yossef, Robinson Chase, Roded Ruth, Rosenthal Franz, Rosenthal Robinson, Rouabah Muriel, Sayyid, Schulten Albert, Shoshan Boaz, Sib, Sievert Der, Sievert Henning, Stoler Ann, Stoler Archival Grain, Umar, Walker Bethany, Walker Bethany, Whitcomb Donald   +90 more
core   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Malaria in Greece: From Ancient Scourge to Eradication. [PDF]

Cureus
Christodoulou MK.
europepmc   +1 more source