Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.

Autor: Sudnawa KK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Pediatrics, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, Thailand., Li W; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY., Calamia S; Department of Pediatrics, Columbia University, New York, NY., Kanner CH; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY., Bain JM; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY., Abdelhakim AH; Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY., Geltzeiler A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Mebane CM; Virginia Tech Carilion School of Medicine, Roanoke, VA., Provenzano FA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY., Sands TT; Departments of Neurology and Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY., Fee RJ; Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Hospital, New York, NY., Montes J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY., Shen Y; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: wendy.chung@childrens.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Aug; Vol. 26 (8), pp. 101169. Date of Electronic Publication: 2024 May 21.

Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder.

Autor: Zreibe K; Department of Rehabilitation, UHealth-Jackson Holtz Children's Hospital, Miami, FL, USA; Department of Rehabilitation & Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA. Electronic address: kyle.zreibe@jhsmiami.org., Kanner CH; Department of Rehabilitation & Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA., Uher D; Department of Biobehavioral Sciences, Teachers College, Columbia University, New York, NY, USA., Beard G; Department of Rehabilitation & Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA., Patterson M; Department of Rehabilitation & Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA., Harris M; Department of Rehabilitation & Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA., Doerger J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Calamia S; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA USA., Montes J; Department of Rehabilitation & Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.

Publikováno v: Gait & posture [Gait Posture] 2024 May; Vol. 110, pp. 77-83. Date of Electronic Publication: 2024 Mar 24.

Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.

Autor: Sudnawa KK; Department of Pediatrics, Columbia University, New York, New York, USA.; Department of Pediatrics, Pramongkutklao Hospital and Pramongkutklao College of Medicine, Bangkok, Thailand., Calamia S; Department of Pediatrics, Columbia University, New York, New York, USA., Geltzeiler A; Department of Pediatrics, Columbia University, New York, New York, USA., Chung WK; Department of Pediatrics, Columbia University, New York, New York, USA.; Department of Medicine, Columbia University, New York, New York, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63471. Date of Electronic Publication: 2023 Nov 13.

Impact of T Lymphocytes Isolated from Liver Perfusate of Deceased Brain Donors on Kidney Transplantation: Preliminary Evidence and Future Directions.

Autor: Pagano D; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Badami E; Department of Laboratory Medicine and Advanced Biotechnologies, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), 90127 Palermo, Italy.; Ri.MED Foundation, 90133 Palermo, Italy., Zito G; Department of Laboratory Medicine and Advanced Biotechnologies, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), 90127 Palermo, Italy., Conaldi PG; Department of Laboratory Medicine and Advanced Biotechnologies, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), 90127 Palermo, Italy., Vella I; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Buscemi B; Nephrology Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Amico G; Ri.MED Foundation, 90133 Palermo, Italy., Busà R; Department of Laboratory Medicine and Advanced Biotechnologies, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), 90127 Palermo, Italy., Salis P; Nephrology Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Li Petri S; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., di Francesco F; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Calamia S; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Bonsignore P; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Tropea A; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Accardo C; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Piazza S; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy., Gruttadauria S; Abdominal Surgery and Organ Transplant Unit, Department for the Treatment and Study of Abdominal Diseases and Abdominal Transplantation, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), University of Pittsburgh Medical Center Italy (UPMCI), 90127 Palermo, Italy.; Department of Surgery and Surgical and Medical Specialties, University of Catania, 95124 Catania, Italy.

Publikováno v: Journal of clinical medicine [J Clin Med] 2023 Jul 20; Vol. 12 (14). Date of Electronic Publication: 2023 Jul 20.

Impact of laparoscopic liver resection for access to the waiting list of a single regional liver transplant center in southern Italy: entry and dropout flows’ analysis

Autor: Pagano, D., Vella, R., Calamia, S., di Francesco, F., Petri, S. Li, Bonsignore, P., Tropea, A., Accardo, C., Vella, I., Magro, B., Laquatra, N., Lorenzo, N. Di, Barbara, M., Gruttadauria, S.

Publikováno v: In Digestive and Liver Disease September 2023 55 Supplement 3:S216-S216