Published in Haematologica on February 01, 2003
Factor VIII products and inhibitor development in severe hemophilia A. N Engl J Med (2013) 2.99
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. J Neurol Sci (2006) 1.95
Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis (2006) 1.34
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet (2009) 1.29
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. Neurology (2013) 1.04
Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A. Blood (2013) 0.96
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain (2008) 0.95
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. J Peripher Nerv Syst (2010) 0.88
First application of MLPA method in severe von Willebrand disease. Confirmation of a new large VWF gene deletion and identification of heterozygous carriers. Br J Haematol (2010) 0.87
The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Eur J Hum Genet (2010) 0.87
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes. JIMD Rep (2012) 0.83
Ancient origin of the CAG expansion causing Huntington disease in a Spanish population. Hum Mutat (2005) 0.82
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Glia (2013) 0.81
Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency. J Inherit Metab Dis (2013) 0.80
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition. Eur J Pediatr (2014) 0.80
Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification. Transl Res (2009) 0.80
Molecular diagnosis of coenzyme Q10 deficiency. Expert Rev Mol Diagn (2015) 0.78
Congenital hypomyelinating neuropathy due to a novel MPZ mutation. J Peripher Nerv Syst (2011) 0.77
Severe and moderate hemophilia A: identification of 38 new genetic alterations. Haematologica (2008) 0.77
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. Pediatr Res (2008) 0.75
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. Mol Vis (2012) 0.75
Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA. Ann Hematol (2008) 0.75
Inherited neuromuscular diseases. Translation from pathomechanisms to therapies. Adv Exp Med Biol (2009) 0.75
Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males. Br J Haematol (2012) 0.75
Prospective surveillance study of haemophilia A patients switching from moroctocog alfa or other factor VIII products to moroctocog alfa albumin-free cell culture (AF-CC) in usual care settings. Thromb Haemost (2015) 0.75
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C. J Int Adv Otol (2017) 0.75
Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C. Hum Genet (2008) 0.75
Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency. Haematologica (2006) 0.75