GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Authors: Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault

Source: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/ea2180d6616342c0a12f6aeb64c93bba

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Authors: Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli

Source: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)

Subject Terms: Progeroid, Panel, Pathogenic,variant, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/5b8ec6fec4c7421196987198b3d889a0

Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

Authors: Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)

Subject Terms: congenital, GLE1, mild, mutation, myopathy, NGS, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/05ff4f1ca3fe4f7e8fead30f22799de0

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report

Authors: Jokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, Chantal Missirian, Nicole Philip, François Poinso

Source: Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-6 (2018)

Subject Terms: 2q13 deletion, Autism spectrum disorder, Atypical autistic phenotype, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13256-018-1620-4; https://doaj.org/toc/1752-1947

Access URL: https://doaj.org/article/b36eca79f6fe4219a5e243701e83bf42

Keep it CooL! Results of a two-year CooL-intervention: a descriptive case series study

Authors: Nicole Philippens, Ester Janssen, Stef Kremers, Rik Crutzen

Source: BMC Public Health, Vol 24, Iss 1, Pp 1-13 (2024)

Subject Terms: Lifestyle, Health promotion, Intervention, Long-term effects, Overweight, Obesity, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2458

Access URL: https://doaj.org/article/83891ec26807497687acc7fad8550fe8

Outcomes of the combined lifestyle intervention CooL during COVID-19: a descriptive case series study

Authors: Ester Janssen, Nicole Philippens, Stef Kremers, Rik Crutzen

Source: BMC Public Health, Vol 24, Iss 1, Pp 1-12 (2024)

Subject Terms: Lifestyle, CooL, Overweight, Obesity, COVID-19, Intervention, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2458

Access URL: https://doaj.org/article/3a8c727353434ae99a1029af8d984a7e

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Determinants of natural adult sleep: An umbrella review.

Authors: Nicole Philippens, Ester Janssen, Stef Kremers, Rik Crutzen

Source: PLoS ONE, Vol 17, Iss 11, p e0277323 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/650d70f30866451f94cfe897b632202e

Continuous Adductor Canal Block used for postoperative pain relief after medial Unicondylar Knee Arthroplasty: a randomized, double-blind, placebo-controlled trial

Authors: Fei Lan, Yanyan Shen, Yanhui Ma, Guanglei Cao, Nicole Philips, Ting Zhang, Tianlong Wang

Source: BMC Anesthesiology, Vol 19, Iss 1, Pp 1-9 (2019)

Subject Terms: Knee, Arthroplasty, Adductor canal block, Local, Analgesia, Anesthesiology, RD78.3-87.3

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12871-019-0787-6; https://doaj.org/toc/1471-2253

Access URL: https://doaj.org/article/0d1ccb20199a4fa5917cb4b19ecaf69f

The Health & Aging Brain among Latino Elders (HABLE) study methods and participant characteristics

Authors: Sid E. O'Bryant, Leigh A. Johnson, Robert C. Barber, Meredith N. Braskie, Bradley Christian, James R. Hall, Nalini Hazra, Kevin King, Deydeep Kothapalli, Stephanie Large, David Mason, Elizabeth Matsiyevskiy, Roderick McColl, Rajesh Nandy, Raymond Palmer, Melissa Petersen, Nicole Philips, Robert A. Rissman, Yonggang Shi, Arthur W. Toga, Raul Vintimilla, Rocky Vig, Fan Zhang, Kristine Yaffe, for the HABLE Study Team

Source: Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)

Subject Terms: Alzheimer's disease, amyloid, biomarkers, diversity, Hispanic, Mexican American, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

File Description: electronic resource

Relation: https://doaj.org/toc/2352-8729

Access URL: https://doaj.org/article/32c6a2cb86ac4675a0b0351004c82687

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