PubRank

Angela Huebner

Author PubWeight™ 46.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet 2005 2.83
2 A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005 1.95
3 Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab 2009 1.68
4 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain 2007 1.35
5 LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat 2010 1.34
6 Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007 1.25
7 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 2012 1.23
8 Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care 2011 1.19
9 Morphologic and immunophenotypic properties of neoplastic cells in a case of mast cell sarcoma. Am J Surg Pathol 2003 1.14
10 Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab 2005 1.13
11 Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol 2009 0.96
12 Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. Orphanet J Rare Dis 2013 0.96
13 Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. J Neurol Sci 2010 0.95
14 Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. Eur J Pediatr 2012 0.94
15 The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. Hum Mol Genet 2007 0.92
16 Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. Muscle Nerve 2007 0.90
17 Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat 2005 0.90
18 CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain 2006 0.90
19 Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. Hum Genet 2002 0.89
20 Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Hum Mutat 2009 0.89
21 Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol 2004 0.89
22 Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet 2013 0.88
23 Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation. Eur J Pediatr 2008 0.88
24 Chromosomal fragility in patients with triple A syndrome. Am J Med Genet A 2003 0.88
25 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord 2011 0.87
26 The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. Biochem Biophys Res Commun 2009 0.87
27 Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord 2003 0.85
28 CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. J Clin Endocrinol Metab 2008 0.84
29 Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol 2003 0.84
30 Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management. Horm Res 2008 0.84
31 Triple A syndrome mimicking ALS. Amyotroph Lateral Scler 2008 0.83
32 A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord 2004 0.83
33 Triple A syndrome: 32 years experience of a single centre (1977-2008). Eur J Pediatr 2010 0.83
34 Intracellular ROS level is increased in fibroblasts of triple A syndrome patients. J Mol Med (Berl) 2010 0.83
35 A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome. Horm Res 2006 0.83
36 Association of chronic symptomatic neutropenia with the triple A syndrome. J Pediatr Hematol Oncol 2005 0.82
37 Triple A (Allgrove) syndrome: an unusual association with syringomyelia. Ital J Pediatr 2013 0.79
38 Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation. Horm Res 2008 0.79
39 Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene. Horm Res 2003 0.78
40 Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation. Muscle Nerve 2008 0.78
41 Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. Eur J Pediatr 2008 0.78
42 Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr 2010 0.77
43 Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. Eur J Hum Genet 2008 0.77
44 Genetic separation of the human lacritin gene ("LACRT") and triple A (Allgrove) syndrome on 12q13. Adv Exp Med Biol 2002 0.76
45 The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy. J Pediatr Gastroenterol Nutr 2005 0.76
46 Female adolescent smoking: a Delphi study on best prevention practices. J Drug Educ 2004 0.76
47 Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. Endocr Res 2004 0.76
48 Mutations of the AAAS gene in an Indian family with Allgrove's syndrome. World J Gastroenterol 2006 0.75
49 Triple A syndrome: two novel mutations in the AAAS gene. BMJ Case Rep 2009 0.75
50 Effects of adolescence-onset hypogonadism on metabolism, bone mineral density and quality of life in adulthood. J Pediatr Endocrinol Metab 2015 0.75
51 New ophthalmic features in a family with triple A syndrome. Int Ophthalmol 2011 0.75
52 Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement. Horm Res Paediatr 2016 0.75
53 Novel Mutations in a Patient with Triple A Syndrome. Indian Pediatr 2015 0.75
54 Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. J Pediatr Endocrinol Metab 2015 0.75
55 Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy. Eur J Pediatr 2005 0.75
56 Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Clin Endocrinol (Oxf) 2007 0.75