Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations-Reference-Cited by-同舟云学术

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations

Published:1999-06 Issue:6 Volume:45 Page:742-750
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Tournev Ivailo,Kalaydjieva Luba,Youl Bryan,Ishpekova Boryana,Guergueltcheva Velina,Kamenov Ognian,Katzarova Maria,Kamenov Zdravko,Raicheva-Terzieva Margarita,King R. H. M.,Romanski Kiril,Petkov Radoslav,Schmarov Alexander,Dimitrova Galina,Popova Nevena,Uzunova Maria,Milanov Stephen,Petrova Julia,Petkov Yanko,Kolarov Georgi,Aneva Lidia,Radeva Olia,Thomas P. K.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference13 articles.

1. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

2. Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings

3. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

4. Lactate determination with LDH, GPT and NAD. In: ed. Methods of enzymatic analysis. New York: Academic Press, 1974: 1475

5. Physical development of the Bulgarian population. Sofia: Bulgarian Sports Association 1992: 34-86

Cited by 41 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Impact of Protein Phosphatase Expressions on the Prognosis of Hepatocellular Carcinoma Patients;ACS Omega;2024-02-20

2. Novel Ocular Features in a Child with Marinesco-Sjögren Syndrome: Case Report and Literature Review;SN Comprehensive Clinical Medicine;2021-05-29

3. Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant;Journal of Ophthalmology;2020-04-29

4. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data;Clinical Genetics;2017-03-01

5. Identification of Novel Biomarkers for Behcet Disease Diagnosis Using Human Proteome Microarray Approach;Molecular & Cellular Proteomics;2017-02