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  • 1-10 ل  3,947 نتائج ل ""Ataxia""

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Subject : mutation
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Academic Journal

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia Telangiectasia Patients: Introducing Two Novel Mutations.

  • Authors : Badalzadeh M; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran AND Children's Medical Center Hospital, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. .; Soleimani Bavani M

Subjects: Ataxia Telangiectasia*/Ataxia Telangiectasia*/Ataxia Telangiectasia*/genetics ; Ataxia Telangiectasia*/Ataxia Telangiectasia*/Ataxia Telangiectasia*/diagnosis ; Ataxia Telangiectasia Mutated Proteins*/Ataxia Telangiectasia Mutated Proteins*/Ataxia Telangiectasia Mutated Proteins*/genetics

  • Source: Iranian journal of allergy, asthma, and immunology [Iran J Allergy Asthma Immunol] 2025 Mar 10; Vol. 24 (2), pp. 187-197. Date of Electronic Publication: 2025 Mar 10.Publisher: Tehran University of Medical Sciences Country of Publication: Iran NLM ID: 101146178 Publication Model: Electronic Cited Medium: Internet

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Academic Journal

Involvement of the Cerebellar Peduncles in FMR1 Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology.

Subjects: Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/genetics ; Fragile X Syndrome*/Fragile X Syndrome*/Fragile X Syndrome*/genetics ; Fragile X Syndrome*/Fragile X Syndrome*/Fragile X Syndrome*/pathology Fragile X Tremor Ataxia Syndrome

  • Source: International journal of molecular sciences [Int J Mol Sci] 2025 May 06; Vol. 26 (9). Date of Electronic Publication: 2025 May 06.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

  • Authors : Lin J; Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.; Li YL

Subjects: Mucolipidoses*/Mucolipidoses*/Mucolipidoses*/genetics ; Mucolipidoses*/Mucolipidoses*/Mucolipidoses*/complications ; Mucolipidoses*/Mucolipidoses*/Mucolipidoses*/diagnosis Neuraminidase 1 deficiency

  • Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Nov; Vol. 11 (11), pp. 2998-3009. Date of Electronic Publication: 2024 Oct 31.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Academic Journal

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

  • Authors : Pi BK; Department of Biological Sciences, Kongju National University, Gongju 32588, Republic of Korea.; Chung YH

Subjects: Charcot-Marie-Tooth Disease*/Charcot-Marie-Tooth Disease*/Charcot-Marie-Tooth Disease*/genetics ; Mutation* ; Muscle Spasticity*/Muscle Spasticity*/Muscle Spasticity*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 09; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 09.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17.

  • Authors : Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 02-106 Warsaw, Poland.; Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland.

Subjects: Mutation* ; TATA-Box Binding Protein*/TATA-Box Binding Protein*/TATA-Box Binding Protein*/genetics ; Trinucleotide Repeat Expansion*/Trinucleotide Repeat Expansion*/Trinucleotide Repeat Expansion*/geneticsSpinocerebellar Ataxia 17

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 26; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 26.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

  • Authors : Chamova T; Department of Neurology, Alexandrovska University Hospital, Medical University-Sofia, Sofia, Bulgaria.; Ivanova N

Subjects: Heat-Shock Proteins*/Heat-Shock Proteins*/Heat-Shock Proteins*/genetics ; Muscle Spasticity*/Muscle Spasticity*/Muscle Spasticity*/genetics ; Muscle Spasticity*/Muscle Spasticity*/Muscle Spasticity*/pathology Spastic ataxia Charlevoix-Saguenay type

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jul; Vol. 12 (7), pp. e2483.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Profiling genetic mutations in the DNA damage repair genes of oral squamous cell carcinoma patients from Pakistan.

  • Authors : Naeem W; Institute of Basic Medical Sciences, Khyber Medical University, Phase V, Peshawar, 25000, Pakistan.; Nawab F

Subjects: DNA Repair*/DNA Repair*/DNA Repair*/genetics ; Mutation* ; Mouth Neoplasms*/Mouth Neoplasms*/Mouth Neoplasms*/genetics

  • Source: Scientific reports [Sci Rep] 2025 Mar 06; Vol. 15 (1), pp. 7896. Date of Electronic Publication: 2025 Mar 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.

  • Authors : Martínez-Monseny AF; Department of Genetic and Molecular Medicine, Institut de Recerca, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Edo A

Subjects: Mutation*; Ataxia/Ataxia/Ataxia/*pathology ; Calcium Channels/Calcium Channels/Calcium Channels/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2021 May 13; Vol. 22 (10). Date of Electronic Publication: 2021 May 13.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.

  • Authors : Amirifar P; Medical genetics department, School of Medicine, Tehran University of medical sciences , Tehran, Iran.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science , Tehran, Iran.

Subjects: Immunoglobulin Class Switching* ; Mutation* ; Phenotype*

  • Source: Immunological investigations [Immunol Invest] 2020 Aug; Vol. 49 (6), pp. 597-610. Date of Electronic Publication: 2019 Nov 25.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8504629 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

  • Authors : Lai LL; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Institute of Neuroscience, Fujian Medical University, Fuzhou, 350005, China.; Chen YJ

Subjects: Phenotype*; Calpain/Calpain/Calpain/*genetics ; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics Spastic Ataxia

  • Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 Oct; Vol. 7 (10), pp. 1862-1869. Date of Electronic Publication: 2020 Aug 29.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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  • 1-10 ل  3,947 نتائج ل ""Ataxia""