Neurological manifestations in xeroderma pigmentosum

No abstract is available for this paper.

• Publication year

  1986

• Venue

  Annals of Neurology

• Publication date

  1986-07-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ana.410200112PMID 3740815
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Kinetic analysis of polyethylene glycol-induced cell fusion in cultured human fibroblasts: its application to genetic complementation analysis of xeroderma pigmentosum.

  1982cited by this paper
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  1982cited by this paper
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  1979cited by this paper
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  1979cited by this paper
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  1978cited by this paper
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  1978cited by this paper
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  1978cited by this paper
• DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.

  1977cited by this paper
• A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A.

  1976cited by this paper
• Five complementation groups in xeroderma pigmentosum.

  1975cited by this paper
• Neurological manifestations of xeroderma pigmentosum in two siblings.

  1974cited by this paper
• Xeroderma Pigmentosum: An Inherited Disease with Sun Sensitivity, Multiple Cutaneous Neoplasms, and Abnormal DNA Repair

  1974cited by this paper
• Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations.

  1972cited by this paper
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  1969cited by this paper
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  1969cited by this paper
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  1966cited by this paper
• XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME.

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• Diseases of the Skin

  1906cited by this paper

• Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report.

  2025cites this paper
• Physical, oral, and swallowing functions of three patients with type A xeroderma pigmentosum: a report of three cases

  2024cites this paper
• Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression

  2023influential citation
• Progressive length‐dependent polyneuropathy in xeroderma pigmentosum group A

  2020cites this paper
• High levels of oxidatively generated DNA damage 8,5'-cyclo-2'-deoxyadenosine accumulate in the brain tissues of xeroderma pigmentosum group A gene-knockout mice.

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• Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome

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• Genome instability in Alzheimer disease.

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• Transcriptional consequences of XPA disruption in human cell lines

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• Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan.

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• DNA damage and its links to neurodegeneration.

  2014cites this paper
• On the Auditory System: genes, DNA repair and ion channels

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• DNA repair mechanisms in dividing and non-dividing cells.

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• Cockayne syndrome pathogenesis: lessons from mouse models.

  2013cites this paper
• Neuroimaging features of xeroderma pigmentosum group A

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• Delayed neuromotor recovery and increased memory acquisition dysfunction following experimental brain trauma in mice lacking the DNA repair gene XPA.

  2012cites this paper
• Accelerated loss of hearing and vision in the DNA-repair deficient Ercc1(δ/-) mouse.

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• Age-Related Neuronal Degeneration: Complementary Roles of Nucleotide Excision Repair and Transcription-Coupled Repair in Preventing Neuropathology

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• Xeroderma pigmentosum: a rare cause of chorea.

  2011cites this paper
• Siblings with Xeroderma Pigmentosum: A Case Report

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• DNA repair deficiency and neurological disease

  2009cites this paper
• Clinical features of xeroderma pigmentosum.

  2008cites this paper
• Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice.

  2008cites this paper
• The nucleotide excision repair of DNA in human cells and its association with xeroderma pigmentosum.

  2008cites this paper
• Neurological symptoms and natural course of xeroderma pigmentosum.

  2008cites this paper
• The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders.

  2008cites this paper
• Lessons learned from DNA repair defective syndromes

  2007cites this paper
• Nucleotide excision repair and cancer

  2006cites this paper
• Childhood Mitochondrial Disorders and Other Inborn Errors of Metabolism Presenting With White Matter Disease

  2005cites this paper
• Convulsive episodes in patients with group A xeroderma pigmentosum

  2005cites this paper
• Ataxies et paraplégies spastiques héréditaires

  2004cites this paper
• Brainstem and Basal Ganglia Lesions in Xeroderma Pigmentosum Group A

  2004cites this paper
• Neurocutaneous Disorders: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

  2004cites this paper
• Molecular genetics of Xeroderma pigmentosum variant

  2003cites this paper
• DNA repair in neural cells: basic science and clinical implications.

  2002cites this paper
• Xeroderma pigmentosum: the first of the cellular caretakers.

  2001cites this paper
• Inducible photoprotection in skin: Evidence for a eukaryotic SOS response

  2001cites this paper
• Hereditary ataxias.

  2000cites this paper
• Brain atrophy and neuronal loss in alcoholism: a role for DNA damage?

  2000cites this paper
• Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation

  2000cites this paper
• Enhanced repair of benzo(a)pyrene-induced DNA damage in human cells treated with thymidine dinucleotides.

  1999cites this paper
• Molecular Studies of Japanese Patients With Group A Xeroderma Pigmentosum Using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism and Nonradioactive Single Strand Conformation Polymorphism Analyses

  1999cites this paper
• DNA Damage Induced Neuronal Death

  1999cites this paper
• Episodic undulating hyperkinesias of the tongue associated with brainstem ischemia

  1997cites this paper
• PCR-RFLP analysis as an aid to genetic counseling of families of Japanese patients with group A xeroderma pigmentosum.

  1997cites this paper
• Neurological manifestations in two related xeroderma pigmentosum group d patients: Complications of the late‐onset type of the juvenile form

  1997cites this paper
• Association of xeroderma pigmentosum with thrombasthenia.

  1996cites this paper
• Proliferating cell nuclear antigen in neurones: induction by u.v. irradiation.

  1996cites this paper
• Truncated XPA protein detected in atypical group A xeroderma pigmentosum

  1996cites this paper
• Motor disturbance during REM sleep in group A xeroderma pigmentosum

  1995cites this paper
• Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP‐A) patients with various combinations of mutation sites

  1995cites this paper
• Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients

  1995cites this paper
• Neurocutaneous syndromes associated with pigmentary skin lesions.

  1995cites this paper
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  1994cites this paper
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  1994cites this paper
• Severe neurological abnormalities associated with a mutation in the zinc‐finger domain in a group A xeroderma pigmentosum patient

  1994cites this paper
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  1993cites this paper
• Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.

  1992cites this paper
• Age-dependent axonal loss in nerve biopsy of patients with xeroderma pigmentosum.

  1992cites this paper
• Allelic heterogeneity in Group A xeroderma pigmentosum

  1992cites this paper
• Three nonsense mutations responsible for group A xeroderma pigmentosum.

  1992cites this paper
• Malignant schwannoma associated with xeroderma pigmentosum in a patient belonging to complementation group D.

  1991cites this paper
• Delayed central conduction of somatosensory evoked potentials in xeroderma pigmentosum

  1991cites this paper
• A Case of Xeroderma Pigmentosum Group D Determined by Photobiological Study

  1991cites this paper
• Neurons and DNA repair: neurologic involvement in xeroderma pigmentosa.

  1991cites this paper
• Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.

  1991cites this paper
• [Presenile dementia in xeroderma pigmentosum].

  1991cites this paper
• Peripheral neuropathy in xeroderma pigmentosum.

  1990cites this paper
• Chromosome instability syndromes.

  1989cites this paper
• A Childhood Neurodegeneration Due to Defective DNA Repair: A Novel Concept of Disease Based on Studies of Xeroderma Pigmentosum

  1989cites this paper
• Peripheral Neuropathy in Four Cases of Group A Xeroderma Pigmentosum

  1988cites this paper
• Xeroderma pigmentosum with versive seizures.

  1988cites this paper
• Delayed sensorineural deafness and skin carcinogenesis in a Japanese xeroderma pigmentosum group D patient.

  1988cites this paper
• Xeroderma pigmentosum with diabetes mellitus. A report of 2 cases plus clinical and biological studies of 8 cases of xeroderma pigmentosum occurring in Tokushima.

  1988cites this paper
• Quantitative histologic study of sural nerves in xeroderma pigmentosum.

  1987cites this paper
• Genetics and skin cancer of xeroderma pigmentosum in Japan.

  1987cites this paper
• Case 42-1987

  1987cites this paper
• Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 42-1987. A 15-year-old boy from the Dominican Republic with a progressive, destructive cutaneous disorder.

  1987cites this paper