Published in Acta Psychiatr Neurol Scand Suppl on January 01, 1959
Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol (2008) 2.66
Alström syndrome: genetics and clinical overview. Curr Genomics (2011) 1.91
Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis (2007) 1.79
Alms1-disrupted mice recapitulate human Alström syndrome. Hum Mol Genet (2005) 1.77
Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. Br J Ophthalmol (1997) 1.43
Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol (2010) 1.25
Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol Biol Cell (2010) 1.20
A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24. Am J Hum Genet (1998) 1.15
Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Hum Mol Genet (2010) 1.09
Cardiac magnetic resonance imaging in Alström syndrome. Orphanet J Rare Dis (2009) 1.04
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. Mol Syndromol (2011) 1.03
Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun (2014) 0.97
Novel Alu retrotransposon insertion leading to Alström syndrome. Hum Genet (2011) 0.94
Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1. Gene (2010) 0.89
Protection from clinical peripheral sensory neuropathy in Alström syndrome in contrast to early-onset type 2 diabetes. Diabetes Care (2008) 0.88
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. BMC Pediatr (2013) 0.88
The progression from obesity to type 2 diabetes in Alström syndrome. Pediatr Diabetes (2011) 0.87
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. Mol Vis (2012) 0.85
Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series. Cases J (2009) 0.84
Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy. Am J Med Genet A (2015) 0.84
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. Middle East Afr J Ophthalmol (2016) 0.83
Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome. J Clin Endocrinol Metab (2015) 0.83
Metabolic syndrome features presenting in early childhood in Alström syndrome: a case report. J Clin Res Pediatr Endocrinol (2009) 0.83
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study. Orphanet J Rare Dis (2015) 0.83
An overview of mongenic and syndromic obesities in humans. Pediatr Blood Cancer (2011) 0.82
Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome. Eur Spine J (2012) 0.81
Novel ALMS1 mutations in Chinese patients with Alström syndrome. Mol Vis (2013) 0.79
High-resolution spectral domain optical coherence tomography images of Alström syndrome. J Pediatr Ophthalmol Strabismus (2010) 0.78
Alström syndrome: current perspectives. Appl Clin Genet (2015) 0.78
Histopathology of the human inner ear in Alström's syndrome. Audiol Neurootol (2015) 0.78
Primary cilia in energy balance signaling and metabolic disorder. BMB Rep (2015) 0.78
Syndromic obesity: clinical implications of a correct diagnosis. Ital J Pediatr (2014) 0.77
Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. J Med Genet (1990) 0.77
Follicular variant of papillary thyroid cancer in Alström syndrome. Fam Cancer (2015) 0.77
Retinitis pigmentosa and deafness. J R Soc Med (1987) 0.77
Coronary artery disease in Alström syndrome. Eur J Hum Genet (2011) 0.77
Levosimendan for bridging in a pediatric patient with Alström syndrome awaiting heart-lung transplantation. Clin Res Cardiol (2008) 0.76
Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome. Indian J Endocrinol Metab (2013) 0.75
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. Am J Med Genet A (2017) 0.75
Syndromes of hearing loss associated with visual loss. Eur Arch Otorhinolaryngol (2013) 0.75
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and Thiamine-responsive megaloblastic anaemia. Hum Mutat (2017) 0.75
The effect of age on the non-haemin iron in the human brain. J Neurochem (1958) 4.83
Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study. Acta Psychiatr Scand Suppl (1959) 1.89
Torsten Sjogren. Acta Psychiatr Scand (1963) 1.65
Specific dyslexia (congenital word-blindness); a clinical and genetic study. Acta Psychiatr Neurol Suppl (1950) 1.52
A study of epilepsy in its clinical, social and genetic aspects. Acta Psychiatr Neurol Suppl (1950) 1.41
Myocardial metabolism of glucose, lactic acid, amino acids and fatty acids in healthy human individuals at rest and at different work loads. Scand J Clin Lab Invest (1961) 1.27
The non-haemin iron in the cerebral cortex in Alzheimer's disease. J Neurochem (1960) 1.24
Enuresis. II. A study with reference to certain physical, mental, and social factors possibly associated with enuresis. Acta Psychiatr Neurol Scand (1956) 1.20
Gas chromatographic analysis of the fatty acid composition of the plasma lipids in normal and diabetic subjects. J Clin Invest (1960) 1.10
Hypophysectomy in the treatment of malignant tumors. Am J Med (1956) 1.09
Haemoglobin formation and storage iron in protein deficiency. Acta Soc Med Ups (1954) 1.00
[Ambulant treatment of an alcoholic clientele with Heminevrin]. Sven Lakartidn (1962) 0.93
Arterial concentrations of free fatty acids and free amino acids in healthy human individuals at rest and at different work loads. Scand J Clin Lab Invest (1962) 0.87
Enuresis. I. A study with reference to the morbidity risk and symptomatology. Acta Psychiatr Neurol Scand (1956) 0.87
[Not Available]. Nord Med (1956) 0.86
MYOCARDIAL ARTERIOVENOUS DIFFERENCES OF INDIVIDUAL FREE FATTY ACIDS IN HEALTHY HUMAN INDIVIDUALS. Metabolism (1963) 0.83
Retinitis pigmentosa in combination with congenital deafness and vestibulocerebellar ataxia; with psychiatric abnormality in some cases; a clinical and genetic study. Acta Genet Stat Med (1958) 0.83
Enuresis: a clinical and genetic study. Acta Psychiatr Neurol Scand Suppl (1957) 0.81
Primary (genuine) vitamin D resistant rickets. IV. A clinical and genetic study. Acta Paediatr (1958) 0.80
Epidermolysis bullosa hereditaria dystrophica. II. Family investigation. Acta Derm Venereol (1954) 0.80
Nocturnal enuresis in twins. I. Methods and material. Acta Psychiatr Scand (1960) 0.79
Myocardial metabolism of glucose, lactic acid, amino acids and fatty acids in healthy human individuals at rest and at different work loads. Verh Dtsch Ges Kreislaufforsch (1961) 0.77
A clinical and genetico-statistical study of schizophrenia and low-grade mental deficiency in a large Swedish rural population. Acta Psychiatr Scand Suppl (1959) 0.75
Nocturnal enuresis in twins. II. Urethro-cystographic examinations. Acta Paediatr (1961) 0.75
Retinal arteriospasm in polycythemia vera. Am J Ophthalmol (1958) 0.75
Population movement in Sweden from a geneticstatistical point of view. Acta Psychiatr Scand (1963) 0.75
[Not Available]. Poumon (1949) 0.75
A study of inheritance of human intelligence. Acta Psychiatr Scand (1961) 0.75
Myocardial extraction of plasma free fatty acids in healthy individuals and diabetics. Metabolism (1962) 0.75
[Specific dyslexia]. Soc Med Tidskr (1952) 0.75
[Genetic problems of epilepsy]. Arch Pediatr Urug (1954) 0.75
The separation of free fatty acids (FFA) from human plasma lipids. Gas chromatographic analysis of the free fatty acid composition in healthy human individuals. Scand J Clin Lab Invest (1962) 0.75
[Exophthalmos. V. Internal medical factors]. Sven Lakartidn (1957) 0.75
[Difficulties in reading and writing (word blindness). II. Genetic aspects]. Nord Med (1958) 0.75
[Hypophysectomy in malignant tumors]. Nord Med (1957) 0.75
Genetics in neurology and psychiatry. Prog Neurol Psychiatry (1952) 0.75
[Endocrine deficiencies after hypophysectomy in humans]. Helv Med Acta (1955) 0.75
[Constitutional dyslexia, or congenital word-blindness]. Nord Med (1949) 0.75
Congenital syphilis; a follow-up study with reference to mental abnormalities. Acta Psychiatr Neurol Scand Suppl (1954) 0.75
Nocturnal enuresis: aetiologic aspects. Acta Paediatr Suppl (1959) 0.75