受强制性开放获取政策约束的文章 - Elisa Cali了解详情
无法在其他位置公开访问的文章：1 篇
White matter abnormalities in 15 subjects with SPG76
A Alkhalifa, S Chen, ZI Hasiloglu, M Filosto, E Cali, H Houlden, ...
Journal of Neurology 270 (12), 5784-5792, 2023
强制性开放获取政策： Fonds de recherche du Québec - Santé
可在其他位置公开访问的文章：25 篇
Riboflavin transporter deficiency
E Cali, N Dominik, A Manole, H Houlden
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
Epileptic phenotypes associated with SNAREs and related synaptic vesicle exocytosis machinery
E Cali, C Rocca, V Salpietro, H Houlden
Frontiers in Neurology 12, 806506, 2022
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
Loss of neuron navigator 2 impairs brain and cerebellar development
A Accogli, S Lu, I Musante, P Scudieri, JA Rosenfeld, M Severino, ...
The Cerebellum 22 (2), 206-222, 2023
强制性开放获取政策： US National Institutes of Health, UK Biotechnology and Biological Sciences …
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
H Morsy, M Benkirane, E Cali, C Rocca, K Zhelcheska, V Cipriani, ...
Genetics in Medicine 25 (1), 76-89, 2023
强制性开放获取政策： US National Institutes of Health, Cancer Research UK, UK Medical Research …
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
F Magrinelli, E Cali, VL Braga, U Yis, H Tomoum, H Shamseldin, ...
Movement disorders clinical practice 9 (2), 218-228, 2022
强制性开放获取政策： German Research Foundation, UK Medical Research Council, National Institute …
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
J Park, A Tucci, V Cipriani, G Demidov, C Rocca, J Senderek, M Butryn, ...
Genetics in Medicine 24 (10), 2079-2090, 2022
强制性开放获取政策： German Research Foundation, UK Medical Research Council, National Institute …
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
A Saffari, M Kellner, C Jordan, H Rosengarten, A Mo, B Zhang, O Strelko, ...
Brain 146 (5), 2003-2015, 2023
强制性开放获取政策： US National Institutes of Health, German Research Foundation, National …
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ...
Genetics in Medicine 25 (4), 100018, 2023
强制性开放获取政策： UK Medical Research Council, European Commission, Government of Spain
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
C Klöckner, JP Fernández-Murray, M Tavasoli, H Sticht, ...
Brain 145 (6), 1916-1923, 2022
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research, UK …
NOTCH2NLC intermediate-length repeat expansion and Parkinson's disease in patients of European descent
WY Yau, R Sullivan, C Rocca, E Cali, J Vandrovcova, NW Wood, ...
Annals of Neurology 89 (3), 633-635, 2021
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
E Cali, M Suri, M Scala, MP Ferla, S Alavi, EA Faqeih, EK Bijlsma, ...
Genetics in Medicine 25 (1), 135-142, 2023
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
SM Saadi, E Cali, LB Khalid, H Yousaf, G Zafar, HN Khan, M Sher, B Vona, ...
Genes 14 (7), 1404, 2023
强制性开放获取政策： German Research Foundation, Alzheimers's UK, UK Biotechnology and Biological …
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
E Calì, SJ Lin, C Rocca, Y Sahin, A Al Shamsi, S El Chehadeh, ...
Genetics in Medicine 24 (10), 2194-2203, 2022
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK …
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
V Salpietro, R Maroofian, MS Zaki, J Wangen, A Ciolfi, S Barresi, ...
The American Journal of Human Genetics 111 (1), 200-210, 2024
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
R Maroofian, R Kaiyrzhanov, E Cali, M Zamani, MS Zaki, M Ferla, ...
Brain 146 (12), 5031-5043, 2023
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
P Borgia, S Baldassari, N Pedemonte, E Alkhunaizi, G D’Onofrio, ...
Orphanet Journal of Rare Diseases 17 (1), 286, 2022
强制性开放获取政策： Government of Italy
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia
PR Nóbrega, A RB de Paiva, KS Souza, JLB de Souza, PL GSB Lima, ...
Brain Communications 6 (1), fcad273, 2024
强制性开放获取政策： UK Medical Research Council, Wellcome Trust
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
E Medico Salsench, R Maroofian, R Deng, K Lanko, A Nikoncuk, B Pérez, ...
Brain 144 (10), e85-e85, 2021
强制性开放获取政策： Netherlands Organisation for Scientific Research, Netherlands Organisation …
Leukoencephalopathy caused by a 17p13. 3 microdeletion
C Wade, T Williams, R Labrum, Y Patel, E Cali, I Davagnanam, ...
Journal of Neurology, Neurosurgery & Psychiatry 95 (3), 290-292, 2024
强制性开放获取政策： UK Medical Research Council, Wellcome Trust
出版信息和资助信息由计算机程序自动确定