Spanish families with cerebral cavernous angioma do not bear 742C→T Hispanic American mutation of the KRIT1 gene

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Annals of Neurology

• Publication date

  2000-06-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/1531-8249(200006)47:6<836::AID-ANA22>3.0.CO;2-9PMID 10852555
• 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.

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  1997cited by this paper
• Use of buccal smears for rapid detection of peroxisomes.

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• Deficit of Brain and Skeletal Muscle Bioenergetics and Low Brain Magnesium in Juvenile Migraine: An in Vivo 31P Magnetic Resonance Spectroscopy Interictal Study

  1997influential reference
• Elevation of cerebral lactate detected by localized ^1H-magneticresonance spectroscopy in migraine during the interictal period

  1996cited by this paper
• Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca Channel

  1996cited by this paper
• A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans.

  1996cited by this paper
• Disorders of peroxisome biogenesis.

  1995cited by this paper
• Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine.

  1995cited by this paper
• Magnetic Resonance Spectroscopy Studies in Migraine

  1994influential reference
• Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterations in a migraine patient.

  1991cited by this paper
• Nonspecific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes.

  1990cited by this paper
• Fetal Neurology (The International Review of Child Neurology)

  1989cited by this paper
• Low Brain Magnesium in Migraine

  1989cited by this paper
• Simple non-invasive method to obtain DNA for gene analysis.

  1988cited by this paper

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• Molecular diagnosis in cerebral cavernous malformations

  2017cites this paper
• Molecular diagnosis in cerebral cavernous malformations.

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• Congenital vascular malformations in childhood.

  2008cites this paper
• Study of cerebral cavernous malformation in Spain and Portugal

  2007cites this paper
• Intracranial cavernous angioma: a practical review of clinical and biological aspects.

  2005influential citation
• Mutations in Apoptosis-related Gene, PDCD10, Cause Cerebral Cavernous Malformation 3

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• Angiogenesis in Nervous System Disorders

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• Vascular morphogenesis: tales of two syndromes.

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