PubRank

M Kyllerman

Author PubWeight™ 49.79‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 2006 2.19
2 Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 2005 1.79
3 Effects on the child of alcohol abuse during pregnancy. Retrospective and prospective studies. Acta Paediatr Scand Suppl 1979 1.60
4 [Rare disabilities--less known syndromes. A challenge for neuropsychiatric rehabilitation]. Lakartidningen 1999 1.38
5 Autism in Angelman syndrome: a population-based study. Pediatr Neurol 1996 1.34
6 Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 2007 1.31
7 Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. Proc Natl Acad Sci U S A 2000 1.15
8 Delineation of a characteristic phenotype in distal trisomy 2q. Helv Paediatr Acta 1984 1.12
9 Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann Neurol 1998 1.09
10 Children with septo-optic dysplasia - how to improve and sharpen the diagnosis. Horm Res 2000 1.04
11 Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. Neurology 2002 0.98
12 Intermittently progressive dyskinetic syndrome in glutaric aciduria. Neuropadiatrie 1977 0.96
13 Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. Neurology 1992 0.96
14 Diagnosis of Epstein-Barr virus-induced central nervous system infections by DNA amplification from cerebrospinal fluid. Ann Neurol 1994 0.94
15 Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. Am J Hum Genet 1999 0.90
16 Children of alcoholic mothers. Growth and motor performance compared to matched controls. Acta Paediatr Scand 1985 0.90
17 Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics 2006 0.89
18 On the prevalence of Angelman syndrome. Am J Med Genet 1995 0.89
19 Epidemiology of mental retardation--a Swedish survey. Brain Dev 1983 0.89
20 Dyskinetic cerebral palsy. I. Clinical categories, associated neurological abnormalities and incidences. Acta Paediatr Scand 1982 0.88
21 X-linked myotubular myopathy: a linkage study. Clin Genet 1990 0.88
22 Glutaric aciduria. A "common" metabolic disorder? Arch Fr Pediatr 1980 0.88
23 Dilated cardiomyopathy and the dystrophin gene: an illustrated review. Br Heart J 1994 0.87
24 An outbreak of Coxsackie virus type B2 among neonates in an obstetrical ward. Acta Paediatr Scand 1974 0.86
25 Children of alcoholic mothers. Developmental, perceptual and behavioural characteristics as compared to matched controls. Acta Paediatr Scand 1985 0.86
26 A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am J Hum Genet 2000 0.86
27 Aicardi syndrome: follow-up investigation of Swedish children born in 1975-2002. Neuropediatrics 2007 0.86
28 Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol 2000 0.84
29 Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies. Epilepsy Res 2000 0.84
30 Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings. Acta Neuropathol 1991 0.83
31 X-linked myotubular myopathy: clinical and pathological findings in a family. Clin Genet 1989 0.83
32 Dyskinetic cerebral palsy. II. Pathogenetic risk factors and intra-uterine growth. Acta Paediatr Scand 1982 0.82
33 The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. Clin Genet 1994 0.82
34 Hereditary multiple exostosis with spinal cord compression in a 13-year-old boy. J Neurol Neurosurg Psychiatry 1994 0.81
35 Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy. Acta Neuropathol 2000 0.81
36 Active epilepsy in mentally retarded children. I. Prevalence and additional neuro-impairments. Acta Paediatr 1995 0.81
37 Clinical, pathogenetic and neuropathological correlates in dystonic cerebral palsy. Eur J Pediatr 1979 0.80
38 Unequal mitotic sister chromatid exchange and different length of Y chromosomes. Hum Genet 1985 0.80
39 Male Rett phenotypes in T158M and R294X MeCP2-mutations. Neuropediatrics 2006 0.80
40 Benzodiazepine amplification of valproate teratogenic effects in children of mothers with absence epilepsy. Neuropediatrics 1993 0.79
41 Fibromyalgia in hyperkalemic periodic paralysis. Scand J Rheumatol 1998 0.79
42 Disorders of the cerebral white matter in children. The spectrum of lesions. Neuropediatrics 1996 0.79
43 Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review. Neuropediatrics 2004 0.79
44 Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings. Acta Neuropathol 1997 0.79
45 Hereditary spastic paraplegia with epileptic myoclonus. Acta Neurol Scand 1991 0.79
46 Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2004 0.78
47 Active epilepsy in mentally retarded children. II. Etiology and reduced pre- and perinatal optimality. Acta Paediatr 1995 0.78
48 Dyskinesia and dystonia in neurometabolic disorders. Neuropadiatrie 1979 0.77
49 Belly dancer syndrome. Acta Paediatr 2012 0.77
50 Clinical outcome after near-fatal late shunt complication in hydrocephalus. Childs Nerv Syst 1994 0.76
51 Intractable epilepsy in a population-based series of mentally retarded children. Epilepsia 1998 0.76
52 Analysis of glial fibrillary acidic protein in the cerebrospinal fluid of children investigated for encephalopathy. Neuropediatrics 1994 0.76
53 Reduced optimality in pre- and perinatal conditions in a Swedish newborn population. Neuropediatrics 1983 0.75
54 Familial mental retardation and progressive spasticity. Clin Genet 1995 0.75
55 Reduced optimality in pre- and perinatal conditions in dyskinetic cerebral palsy--distribution and comparison to controls. Neuropediatrics 1983 0.75
56 Acquired toxoplasmosis and acute hemisyndrome in childhood. Arch Dis Child 1979 0.75
57 On the significance of pericentric inversions of chromosome 2. Hum Genet 1986 0.75
58 Clinical, serological and PCR evidence of cytomegalovirus infection in the central nervous system in infancy and childhood. Neuropediatrics 1994 0.75
59 Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1989 0.75
60 [Alcohol and pregnancy]. Lakartidningen 1977 0.75
61 Characteristics of seizures in a population-based series of mentally retarded children with active epilepsy. Epilepsia 1996 0.75
62 Neurovascular microdysgenesis in a case of Unverricht-Lundborg's disease. Epilepsy Res 1992 0.75
63 Infantile spinal muscular atrophy (morbus Werdnig-Hoffmann) causing neonatal asphyxia. Neuropadiatrie 1977 0.75
64 [Gene amplification in viral CNS infections. Rapid diagnostic identification of herpesviruses]. Lakartidningen 1995 0.75
65 Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia. Hum Genet 1991 0.75
66 [Practical information on Angelman syndrome]. Lakartidningen 1996 0.75