Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 49 Records) |
Query Trace: Leukodystrophy[original query] |
---|
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review. Journal of clinical medicine 2019 5 8 (5): . Garau Jessica, Cavallera Vanessa, Valente Marialuisa, Tonduti Davide, Sproviero Daisy, Zucca Susanna, Battaglia Domenica, Battini Roberta, Bertini Enrico, Cappanera Silvia, Chiapparini Luisa, Crasà Camilla, Crichiutti Giovanni, Dalla Giustina Elvio, D'Arrigo Stefano, De Giorgis Valentina, De Simone Micaela, Galli Jessica, La Piana Roberta, Messana Tullio, Moroni Isabella, Nardocci Nardo, Panteghini Celeste, Parazzini Cecilia, Pichiecchio Anna, Pini Antonella, Ricci Federica, Saletti Veronica, Salvatici Elisabetta, Santorelli Filippo M, Sartori Stefano, Tinelli Francesca, Uggetti Carla, Veneselli Edvige, Zorzi Giovanna, Garavaglia Barbara, Fazzi Elisa, Orcesi Simona, Cereda Cristi |
Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients. Neuropediatrics 2019 2 50 (2): 130-134. Rezaei Zahra, Hosseinpour Sareh, Ashrafi Mahmoud Reza, Mahdieh Nejat, Alizadeh Houman, Mohammadpour Masoud, Khosroshahi Nahideh, Amanat Man, Tavasoli Ali Re |
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD). BMC research notes 2019 11 12 (1): 726. Hettiarachchi D, Dissanayake V H |
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy. Journal of human genetics 2019 1 64 (4): 323-331. Narayanan Dhanya Lakshmi, Matta Divya, Gupta Neerja, Kabra Madhulika, Ranganath Prajnya, Aggarwal Shagun, Phadke Shubha R, Datar Chaitanya, Gowrishankar Kalpana, Kamate Mahesh, Jain Jamal Mohammed Nurul, Dalal Ashw |
Elevated Leukodystrophy Incidence Predicted From Genomics Databases. Pediatric neurology 2020 9 111 66-69. Soderholm Haille E, Chapin Alexander B, Bayrak-Toydemir Pinar, Bonkowsky Joshua |
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Journal of inherited metabolic disease 2020 8 43 (6): 1298-1309. Adang Laura A, Schlotawa Lars, Groeschel Samuel, Kehrer Christiane, Harzer Klaus, Staretz-Chacham Orna, Silva Thiago Oliveira, Schwartz Ida Vanessa D, Gärtner Jutta, De Castro Mauricio, Costin Carrie, Montgomery Esperanza Font, Dierks Thomas, Radhakrishnan Karthikeyan, Ahrens-Nicklas Rebecca |
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients. Neurogenetics 2020 7 21 (4): 289-299. Beerepoot Shanice, van Dooren Silvy J M, Salomons Gajja S, Boelens Jaap Jan, Jacobs Edwin H, van der Knaap Marjo S, van Kuilenburg André B P, Wolf Nicole |
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis. Molecular genetics & genomic medicine 2020 5 8 (8): e1305. Juárez-Osuna Jesús A, Mendoza-Ruvalcaba Sandra C, Porras-Dorantes Angela, Da Silva-José Thiago D, García-Ortiz José |
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives. Molecular genetics and metabolism reports 2020 12 25 100688. Pekgül Faruk, Ero?lu-Ertu?rul Nesibe Gevher, Bekircan-Kurt Can Ebru, Erdem-Ozdamar Sevim, Çetinkaya Arda, Tan Ersin, Konu?kan Bahad?r, Karaa?ao?lu Ergun, Topçu Meral, Akarsu Nurten Ay?e, Oguz Kader K, Anlar Banu, Özkara Hatice Asum |
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum. Journal of molecular neuroscience : MN 2020 11 71 (5): 1112-1130. Amr Khalda, Fateen Ekram, Mansour Lobna, Tosson Angie Ms, Zaki Maha S, Salam Ghada Mh Abdel, Mohamed Ahmed Nabil, El-Bassyouni Hala |
Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy. Neurology 2020 10 96 (2): e255-e266. Kehrer Christiane, Elgün Saskia, Raabe Christa, Böhringer Judith, Beck-Wödl Stefanie, Bevot Andrea, Kaiser Nadja, Schöls Ludger, Krägeloh-Mann Ingeborg, Groeschel Samu |
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies. Frontiers in neurology 2019 10 1321. Wang Xingao, Wang Qun, Tang Hefei, Chen Bin, Dong Xiang, Niu Songtao, Li Shaowu, Shi Yuzhi, Shan Wei, Zhang Zaiqia |
Evaluating the role of ARSA in Chinese patients with Parkinson's disease. Neurobiology of aging 2021 Aug . Pan Hong-Xu, Wang Yi-Ge, Zhao Yu-Wen, Zeng Qian, Wang Zheng, Fang Zheng-Huan, Zhang Yi, Zhou Xun, He Run-Cheng, Xu Qian, Sun Qi-Ying, Tan Jie-Qiong, Yan Xin-Xiang, Li Jin-Chen, Tang Bei-Sha, Guo Ji-Fe |
Novel variants causing megalencephalic leukodystrophy in Sudanese families. Journal of human genetics 2021 Sep . Amin Mutaz, Vignal Cedric, Hamed Ahlam A A, Mohammed Inaam N, Elseed Maha A, Drunat Severine, Babai Arwa, Eltaraifee Esraa, Elbadi Iman, Abubaker Rayan, Mustafa Doaa, Yahia Ashraf, Koko Mahmoud, Osman Melka, Bakhit Yousuf, Elshafea Azza, Alsiddig Mohamed, Haroun Sahwah, Lelay Gurvan, Elsayed Liena E O, Ahmed Ammar E, Boespflug-Tanguy Odile, Dorboz Im |
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy. Pediatric neurology 2021 6 121 11-19. Helman Guy, Zerem Ayelet, Almad Akshata, Hacker Julia L, Woidill Sarah, Sase Sunetra, LeFevre Alexandra N, Ekstein Josef, Johansson Martin M, Stutterd Chloe A, Taft Ryan J, Simons Cas, Grinspan Judith B, Pizzino Amy, Schmidt Johanna L, Harding Brian, Hirsch Yoel, Viaene Angela N, Fattal-Valevski Aviva, Vanderver Adeli |
Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant. Clinical case reports 2021 5 9 (5): e04171. Troncoso Mónica, Balut Fernanda, Witting Scarlet, Rubilar Carla, Carrera Jorge, Cartes Fabiola, Herrera Lui |
Disease variants of human ?-pyrroline-5-carboxylate reductase 2 (PYCR2). Archives of biochemistry and biophysics 2021 3 703 108852. Patel Sagar M, Seravalli Javier, Liang Xinwen, Tanner John J, Becker Donald |
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants. Scientific reports 2021 2 11 (1): 3231. Mahdieh Nejat, Soveizi Mahdieh, Tavasoli Ali Reza, Rabbani Ali, Ashrafi Mahmoud Reza, Kohlschütter Alfried, Rabbani Bahar |
High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy. Frontiers in neurology 2021 12 631407. Chen Zhiyong, Tan Yi Jayne, Lian Michelle M, Tandiono Moses, Foo Jia Nee, Lim Weng Khong, Kandiah Nagaendran, Tan Eng-King, Ng Adeline S |
Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia. Neuropathology : official journal of the Japanese Society of Neuropathology 2021 11 42 (1): 58-65. Sytsma Trevor M, Chen Dong-Hui, Rolf Bradley, Dorschner Michael, Jayadev Suman, Keene C Dirk, Zhang Jing, Bird Thomas D, Latimer Caitlin |
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. American journal of medical genetics. Part A 2021 11 188 (2): 708-712. Perrier Stefanie, Gauquelin Laurence, Wambach Jennifer A, Bernard Geneviè |
Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy. Epilepsy research 2021 Nov 177 106782. Nouri Nayereh, Bahreini Amir, Nasiri Jafar, Salehi Manso |
A case of CSF1R-related leukoencephalopathy: serial neuroimaging and neuropsychological tests. Neurocase 2021 10 27 (5): 415-418. Sohn Eun Hee, Lee Juyoun, Lee Ae Young, Shin Jin-Ho |
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity. Clinical neurology and neurosurgery 2020 Dec 201 106448. Mahdieh Nejat, Sharifi Ameneh, Rabbani Ali, Ashrafi Mahmoudreza, Tavasoli Ali Reza, Badv Reza Shervin, Bonkowsky Joshua L, Rabbani Bahar |
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Gene. Molecular syndromology 2022 9 13 (4): 305-317. Mara? Genç Hülya, Akp?nar Gürler, Kasap Murat, Uyur Yalç?n Emek, Üstek Duran, Aslanger Ayça Dilruba, Kara Büle |
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature. JIMD reports 2022 7 63 (4): 292-302. Laugwitz Lucia, Santhanakumaran Vidiyaah, Spieker Mareike, Boehringer Judith, Bender Benjamin, Gieselmann Volkmar, Beck-Woedl Stefanie, Bruchelt Gernot, Harzer Klaus, Kraegeloh-Mann Ingeborg, Groeschel Samu |
Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan. Annals of clinical and translational neurology 2022 4 9 (5): 747-755. Ando Masahiro, Higuchi Yujiro, Yuan Jun-Hui, Yoshimura Akiko, Kitao Ruriko, Morimoto Takehiko, Taniguchi Takaki, Takeuchi Mika, Takei Jun, Hiramatsu Yu, Sakiyama Yusuke, Hashiguchi Akihiro, Okamoto Yuji, Mitsui Jun, Ishiura Hiroyuki, Tsuji Shoji, Takashima Hiros |
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families. Brain & development 2022 4 44 (7): 454-461. Khalaf-Nazzal Reham, Dweikat Imad, Maree Mosab, Alawneh Maysa, Barahmeh Myassar, Doulani Rasha T, Qrareya Mohammad, Qadi Mohammad, Dudin Anw |
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C. Journal of medical genetics 2023 5 . Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Berna |
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences 2023 11 24 (22): . Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espin |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: