نتائج البحث - "early-onset cerebellar ataxia"

المصدر: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: CaV2.1 (P/Q-type) voltage-dependent calcium channel, cerebellar atrophy, CACNA1A gene, ataxia, dysmorphic traits, early-onset cerebellar ataxia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8c5ddb056bae8efd0c5e2056ab95d27b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19670

Find this article in full text from ProQuest

5

CACNA1A mutations causing early onset ataxia: profiling clinical, dysmorphic and structural-functional findings

المؤلفون: L. Carrera, Jordi Muchart, José M. Fernández-Fernández, Mercè Izquierdo-Serra, Loreto Martorell, Mercedes Serrano, Dídac Casas-Alba, Carlos Ortez, Mercè Bolasell, Andrés Nascimento, David Conejo, Antonio Martinez-Monseny, Albert Edo, Baldo Oliva

المصدر: International Journal of Molecular Sciences
Dipòsit Digital de la UB
Universidad de Barcelona
Volume 22
Issue 10
International Journal of Molecular Sciences, Vol 22, Iss 5180, p 5180 (2021)

مصطلحات موضوعية: 0301 basic medicine, CaV2.1 (P/Q-type) voltage-dependent calcium channel, Ataxia, Prominent forehead, Nasal bridge, QH301-705.5, Catalysis, Article, Inorganic Chemistry, Malalties del sistema nerviós, Neurologia, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Neuroimaging, medicine, Biology (General), Physical and Theoretical Chemistry, Hypertelorism, QD1-999, Molecular Biology, Spectroscopy, business.industry, Organic Chemistry, CACNA1A gene, Nervous system Diseases, General Medicine, medicine.disease, Phenotype, Computer Science Applications, Chemistry, 030104 developmental biology, Neurology, Cerebellar atrophy, Dysmorphic traits, medicine.symptom, business, Neuroscience, 030217 neurology & neurosurgery, Early-onset cerebellar ataxia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::720a7114d30688d11c0b07cf7d18ba8b
http://hdl.handle.net/10230/47763

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Author response for 'Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia'

المؤلفون: Mitali Mukerji, Inder Singh, Achal Kumar Srivastava, Nishu Tyagi, Varun Suroliya, Renu Kumari, K P Divya, Ajith Cherian, Ajay Garg, Sunil Shakya, Mohammed Faruq, Aditi Joshi

مصطلحات موضوعية: Genetics, Early Onset Cerebellar Ataxia, Biology, Exome, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::28081348cbe1fdc677f718cd00691716
https://doi.org/10.1111/cge.13625/v2/response1

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Review for 'Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia'

المؤلفون: Lydie Burglen

مصطلحات موضوعية: Genetics, Early Onset Cerebellar Ataxia, Biology, Exome, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::98f6048d56d97d4fdea310e1e5e21490
https://doi.org/10.1111/cge.13625/v1/review1

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A clinical diagnostic algorithm for early onset cerebellar ataxia

المساهمون: Neurology, Academic Medical Center, Klinische Genetica, RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Molecular Neuroscience and Ageing Research (MOLAR), Movement Disorder (MD)

المصدر: European Journal of Paediatric Neurology, 23, 692-706
European Journal of Paediatric Neurology, 23(54), 692-706. W.B. Saunders
European journal of paediatric neurology : EJPN, 23(5), 692-706. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 23(5), 692-706. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 23, 54, pp. 692-706
European Journal of Paediatric Neurology, 23(54), 692-706. ELSEVIER SCI LTD
European journal of paediatric neurology 23(5), 692-706 (2019). doi:10.1016/j.ejpn.2019.08.004

مصطلحات موضوعية: Male, Neurology, Decision Support Systems, CHILDREN, 0302 clinical medicine, Cerebellum, Diagnosis, RATING-SCALE, Family history, Child, SPASTIC PARAPLEGIA, Spinocerebellar Degenerations, Early Onset Ataxia, medicine.diagnostic_test, General Medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], diagnosis [Spinocerebellar Degenerations], 3. Good health, Algorithm, NGS techniques, Adolescent, Diagnosis, Differential, Female, Humans, Algorithms, Decision Support Systems, Clinical, DIFFERENTIAL-DIAGNOSIS, medicine.symptom, medicine.medical_specialty, Ataxia, OCULOMOTOR APRAXIA TYPE-2, 03 medical and health sciences, Clinical, All institutes and research themes of the Radboud University Medical Center, 030225 pediatrics, medicine, ddc:610, Early Onset Cerebellar Ataxia, Genetic testing, MUTATIONS, business.industry, VITAMIN-E-DEFICIENCY, GENE, Pediatrics, Perinatology and Child Health, Differential, Etiology, Neurology (clinical), Differential diagnosis, FOLLOW-UP, Large group, business, CEREBROTENDINOUS XANTHOMATOSIS, 030217 neurology & neurosurgery