Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia
暂无分享,去创建一个
[1] R. Sarpong,et al. Bio-inspired synthesis of xishacorenes A, B, and C, and a new congener from fuscol† †Electronic supplementary information (ESI) available. See DOI: 10.1039/c9sc02572c , 2019, Chemical science.
[2] L. Corben,et al. Clinical Features of Friedreich Ataxia , 2012, Journal of child neurology.
[3] F. Bayraklı,et al. Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2 , 2012, Acta Neurochirurgica.
[4] M. Koenig,et al. The autosomal recessive cerebellar ataxias. , 2012, The New England journal of medicine.
[5] P. Rizzu,et al. A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations? , 2012, Genetic counseling.
[6] M. Ciołkowski,et al. Cavum velum interpositum, cavum septum pellucidum and cavum Vergae: a review , 2011, Child's Nervous System.
[7] J. Schulz,et al. Diagnosis and treatment of Friedreich ataxia: a European perspective , 2009, Nature Reviews Neurology.
[8] F. Hentati,et al. Autosomal Recessive Ataxia Caused by Three Distinct Gene Defects in a Single Consanguineous Family , 2008, Journal of neurogenetics.
[9] J. Zlotogora. Multiple mutations responsible for frequent genetic diseases in isolated populations , 2007, European Journal of Human Genetics.
[10] C. Espinós,et al. Orphanet Journal of Rare Diseases BioMed Central Review , 2006 .
[11] A. Verdú,et al. Familial arachnoid cysts. , 2005, Pediatric neurology.
[12] R. Grewal,et al. Familial arachnoid cysts associated with oculopharyngeal muscular dystrophy , 2003, Journal of Clinical Neuroscience.
[13] M. Panas,et al. Friedreich's ataxia mimicking hereditary motor and sensory neuropathy , 2002, Journal of Neurology.
[14] M. Koenig,et al. Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families , 2002, Journal of the Neurological Sciences.
[15] Shin Kwak,et al. FRIEDREICH'S ATAXIA , 1917, Nihon rinsho. Japanese journal of clinical medicine.
[16] Kevin Barraclough,et al. I and i , 2001, BMJ : British Medical Journal.
[17] I. Ovchinnikov,et al. Different phenotypes of Friedreich's ataxia within one ‘pseudo‐dominant’ genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features , 2000, European journal of neurology.
[18] A. Harding. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. , 1981, Brain : a journal of neurology.
[19] J. Browne. Arachnoid Cysts , 1875, Journal of psychological medicine and mental pathology.