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Literature DB >> 13429376

Progressive familial choreoathetosis with cutaneous telangiectasia.

C E WELLS, G M SHY.

Abstract

Entities: Disease

Keywords: ATHETOSIS/case reports; CHOREA/case reports; TELANGIECTASIS/case reports

Mesh：

Year: 1957 PMID： 13429376 PMCID： PMC497239 DOI： 10.1136/jnnp.20.2.98

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

× No keyword cloud information.

4 in total

1. Pallido-pyramidal disease.

Authors: R T ROSS
Journal: Can Med Assoc J Date: 1955-07-01 Impact factor: 8.262

2. Studies on copper metabolism. XIV. Radioactive copper studies in normal subjects and in patients with hepatolenticular degeneration.

Authors: J A BUSH; J P MAHONEY; H MARKOWITZ; C J GUBLER; G E CARTWRIGHT; M M WINTROBE
Journal: J Clin Invest Date: 1955-12 Impact factor: 14.808

3. Studies on copper metabolism. XIII. Hepatolenticular degeneration.

Authors: G E CARTWRIGHT; R E HODGES; C J GUBLER; J P MAHONEY; K DAUM; M M WINTROBE; W B BEAN
Journal: J Clin Invest Date: 1954-11 Impact factor: 14.808

4. [Cortico-strio-spinal degeneration; anatomoclinical studies of Creutzfeldt-Jakob disease].

Authors: J DE AJURIAGUERRA; H HECAEN; F LAYANI; R SADOUN
Journal: Rev Neurol (Paris) Date: 1953 Impact factor: 2.607

4 in total

10 in total

1. [ON ATAXIA WITH TELANGIECTASIA, AN ANATOMICAL-CLINICAL OBSERVATION].

Authors: E OSTETOWSKA; H TRACZYNSKA
Journal: Acta Neuropathol Date: 1964-03-04 Impact factor: 17.088

2. ATAXIA TELANGIECTASIA.

Authors: H L UTIAN; M PLIT
Journal: J Neurol Neurosurg Psychiatry Date: 1964-02 Impact factor: 10.154

3. Bibliography of human genetics.

Authors: R H POST
Journal: Am J Hum Genet Date: 1958-06 Impact factor: 11.025

4. Familial Ataxia-telangiectasia.

Authors: J D Pickup; R J Pugh
Journal: Arch Dis Child Date: 1961-06 Impact factor: 3.791

5. A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

Authors: Rosanna Beraldi; Chun-Hung Chan; Christopher S Rogers; Attila D Kovács; David K Meyerholz; Constantin Trantzas; Allyn M Lambertz; Benjamin W Darbro; Krystal L Weber; Katherine A M White; Richard V Rheeden; Michael C Kruer; Brian A Dacken; Xiao-Jun Wang; Bryan T Davis; Judy A Rohret; Jason T Struzynski; Frank A Rohret; Jill M Weimer; David A Pearce
Journal: Hum Mol Genet Date: 2015-09-15 Impact factor: 6.150

Progressive familial choreoathetosis with cutaneous telangiectasia.

1. Pallido-pyramidal disease.

2. Studies on copper metabolism. XIV. Radioactive copper studies in normal subjects and in patients with hepatolenticular degeneration.

3. Studies on copper metabolism. XIII. Hepatolenticular degeneration.

4. [Cortico-strio-spinal degeneration; anatomoclinical studies of Creutzfeldt-Jakob disease].

1. [ON ATAXIA WITH TELANGIECTASIA, AN ANATOMICAL-CLINICAL OBSERVATION].

2. ATAXIA TELANGIECTASIA.

3. Bibliography of human genetics.

4. Familial Ataxia-telangiectasia.

5. A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

6. [Chorea in polycythemia vera].

7. ATAXIA-TELANGIECTASIA.

Review 8. DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.

9. Disorders of Upper Limb Movements in Ataxia-Telangiectasia.

10. A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.