Results 251 to 260 of about 225,081 (303)

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

Movement Disorders, EarlyView.
Abstract Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN‐associated frontotemporal dementia (FTD‐GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients.
Christian A. Ganoza, Ana Westenberger, Jefri J. Paul, Filipa Curado, Jörg Rennecke, Sumanth Mannepalli, Emir Zonic, Deepa Saravanakumar, Omid Paknia, Ruslan Al‐Ali, Björn‐Hergen Laabs, Ilona Csoti, Franco Valzania, Wim Vandenberghe, Katrin Reetz, Mitra Afshari, Sharon Hassin‐Baer, Erich Talamoni Fonoff, Doreen Gruber, Anna de Rosa, Thomas Musacchio, Patricia de Carvalho Aguiar, Anna Negrotti, Vitor Tumas, Juan Carlos Gomez‐Esteban, Tanya Gurevich, Nicola Pavese, Jaime Kulisevsky, Esther Sammler, Christine Klein, Peter Bauer, Christian Beetz   +31 more
wiley   +1 more source

Genetic analysis of Han-Chinese patients with isolated congenital ptosis. [PDF]

Int J Ophthalmol
Zhang QL, Yuan LM, Deng XY, Zheng W, Yi JH, Xu HB, Deng H.   +6 more
europepmc   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Genetic Biomarkers for Moyamoya Disease Beyond Angiography. [PDF]

J Clin Neurol
Kwon HS, Koh SH.
europepmc   +1 more source

DNMT3A p.R882C driven proliferation and anti-apoptotic effects in pancreatic cancer cells. [PDF]

Sci Rep
Qu Z, Mao J, Qian Y, Cao J, Jiang S.
europepmc   +1 more source

Whole exome sequencing

, 2014
Bou de Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +1 more source

Situs Inversus Totalis: A Case Report and Literature Review. [PDF]

Clin Case Rep
Du X, Wang N, Sheng J, Zhang Y, Gao J.
europepmc   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source

Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women. [PDF]

Diagnostics (Basel)
Kim SK, Hong SJ, Song SI, Lee JK, Kim G, Choi BJ, Seon S, Kim SJ, Ban JY, Kang SW.   +9 more
europepmc   +1 more source