Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol (2013) 0.89

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration: a late onset variant of PCH-1? Eur J Paediatr Neurol (2008) 0.75

Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl. J Pediatr Neurosci (2014) 0.75

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A (2012) 2.70

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics (2014) 2.08

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95

Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94

Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol (2011) 1.88

Developmental coordination disorder in children with attention-deficit-hyperactivity disorder and physical therapy intervention. Dev Med Child Neurol (2007) 1.60

NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet (2011) 1.56

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet (2008) 1.52

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol (2010) 1.47

Prenatal brain disruption in molybdenum cofactor deficiency. J Child Neurol (2011) 1.45

A benign congenital myopathy in an inbred Samaritan family. Eur J Paediatr Neurol (2006) 1.41

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero. J Child Neurol (2012) 1.39

Infant botulism in Israel: knowledge enables prompt diagnosis. Isr Med Assoc J (2004) 1.39

Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia (2014) 1.38

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol (2005) 1.32

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.29

Significance of microcephaly among children with developmental disabilities. J Child Neurol (2002) 1.28

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet (2010) 1.21

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology (2013) 1.19

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet (2010) 1.13

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. Am J Med Genet A (2011) 1.11

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron (2013) 1.06

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol (2009) 1.05

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Ann Neurol (2009) 1.02

A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet (2008) 1.01

Neurologic involvement in a child with systemic capillary leak syndrome. Pediatrics (2010) 1.01

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A (2012) 1.00

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab (2007) 0.99

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . Neurogenetics (2012) 0.99

The fetal cerebellum. Pitfalls in diagnosis and management. Prenat Diagn (2009) 0.98

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA. Prenat Diagn (2003) 0.97

Clinical experience with open-label topiramate use in infants younger than 2 years of age. J Child Neurol (2003) 0.96

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia (2013) 0.96

The clinical spectrum of fetal Niemann-Pick type C. Am J Med Genet A (2009) 0.95

Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings. AJNR Am J Neuroradiol (2003) 0.95

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Am J Med Genet A (2009) 0.95

Clinical and radiologic correlates of frontal intermittent rhythmic delta activity. J Clin Neurophysiol (2002) 0.94

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations. Am J Med Genet A (2010) 0.94

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Mol Genet Metab (2009) 0.94

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. Eur J Hum Genet (2010) 0.93

Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community. Am J Med Genet A (2006) 0.91

A prospective, multicenter, open-label assessment of atomoxetine in non-North American children and adolescents with ADHD. Eur Child Adolesc Psychiatry (2004) 0.90

Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. Isr Med Assoc J (2003) 0.90

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol (2012) 0.89

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs. Mol Genet Metab (2010) 0.89

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. J Med Genet (2012) 0.88

Severe refractory status epilepticus owing to presumed encephalitis. J Child Neurol (2005) 0.88

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy. Mol Vis (2012) 0.88

Autoimmune epilepsy: distinct subpopulations of epilepsy patients harbor serum autoantibodies to either glutamate/AMPA receptor GluR3, glutamate/NMDA receptor subunit NR2A or double-stranded DNA. Epilepsy Res (2005) 0.87

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Mol Vis (2011) 0.87

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. Muscle Nerve (2010) 0.86

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. Eur J Paediatr Neurol (2010) 0.86

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. J Med Genet (2010) 0.85

Benign childhood epilepsy with centrotemporal spikes: clinical characteristics and identification of patients at risk for multiple seizures. J Child Neurol (2002) 0.85

Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet (2010) 0.85

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region. Am J Med Genet A (2012) 0.84

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. J Neurol Sci (2011) 0.84

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet (2014) 0.83

Does physical therapy improve outcome in infants with joint hypermobility and benign hypotonia? J Child Neurol (2009) 0.83

Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomy. Clin Dev Immunol (2004) 0.83

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Eur J Hum Genet (2004) 0.83

Pediatric refractory partial status epilepticus responsive to topiramate. J Child Neurol (2005) 0.83

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence. J Child Neurol (2010) 0.83

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. Eur J Hum Genet (2009) 0.82

Israeli children with autism spectrum disorder are not macrocephalic. J Child Neurol (2011) 0.82

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. Eur J Clin Invest (2012) 0.82

Imaging of fetal cytomegalovirus infection. Fetal Diagn Ther (2010) 0.82

Technetium 99m ethylcysteinate dimer single-photon emission computed tomography (SPECT) during intellectual stress test in children and adolescents with pure versus comorbid attention-deficit hyperactivity disorder (ADHD). J Child Neurol (2004) 0.82

Glycogen storage disease type III in Israel: presentation and long-term outcome. Pediatr Endocrinol Rev (2014) 0.82

Developmental outcome of children with enlargement of the cisterna magna identified in utero. J Child Neurol (2009) 0.81

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. Eur J Med Genet (2012) 0.81

Fetal central nervous system: MR imaging versus dedicated US--need for prospective, blind, comparative studies. Radiology (2004) 0.81

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. Mol Genet Metab (2010) 0.81

Costeff syndrome: clinical features and natural history. J Neurol (2014) 0.81

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. Gene (2012) 0.81

Marriage patterns and reproductive decision-making in the inhabitants of a single Muslim village during a 50-year period. Hum Hered (2014) 0.80

Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist. Pediatr Infect Dis J (2013) 0.80

Clinical correlates of frontal intermittent rhythmic delta activity in children. J Child Neurol (2003) 0.80

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. Am J Med Genet A (2007) 0.80

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. Eur J Endocrinol (2010) 0.80

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. JIMD Rep (2013) 0.79

Primary disorders of metabolism and disturbed fetal brain development. Clin Perinatol (2009) 0.79

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome. J Neurol (2012) 0.79