Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination.

CAG repeat lengths > or =335 attenuate the phenotype in the R6/2 Huntington's disease transgenic mouse. Neurobiol Dis (2008) 1.19

Metabolic dysfunction in Alzheimer's disease and related neurodegenerative disorders. Curr Alzheimer Res (2012) 1.19

A critical window of CAG repeat-length correlates with phenotype severity in the R6/2 mouse model of Huntington's disease. J Neurophysiol (2011) 1.01

An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington's Disease. PLoS Curr (2011) 0.86

Managing juvenile Huntington's disease. Neurodegener Dis Manag (2013) 0.76

A case of juvenile huntington disease in a 6-year-old boy. J Mov Disord (2010) 0.75

Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review. BMC Neurol (2017) 0.75

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet (2013) 1.40

CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity. Acta Neuropathol (2014) 1.28

Difficulties in differentiation of Parry-Romberg syndrome, unilateral facial sclerodermia, and Rasmussen syndrome. Childs Nerv Syst (2005) 1.07

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics (2005) 1.06

Malignant transformation in the course of a dentigerous cyst: a problem for a clinician and a pathologist. Considerations based on a case report. Pol J Pathol (2013) 1.03

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease. Hum Genet (2006) 1.00

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet (2012) 0.94

Hereditary neuropathy with liability to pressure palsy. Folia Neuropathol (2006) 0.94

SCA8 repeat expansion coexists with SCA1--not only with SCA6. Am J Hum Genet (2003) 0.93

Investigations of differences in iron oxidation state inside single neurons from substantia nigra of Parkinson's disease and control patients using the micro-XANES technique. J Biol Inorg Chem (2006) 0.89

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat (2011) 0.89

Cutting edge issues in the Churg-Strauss syndrome. Clin Rev Allergy Immunol (2013) 0.87

Morphological aspects of the traumatic chronic subdural hematoma capsule: SEM studies. Microsc Microanal (2007) 0.85

Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease. Parkinsonism Relat Disord (2009) 0.83

Fetus in fetu: a medical curiosity--considerations based upon an intracranially located case. Childs Nerv Syst (2013) 0.83

Tumours and tumour-like lesions of the spinal canal and spine. A review of 185 consecutive cases with more detailed close-up on some chosen pathologies. Pol J Pathol (2011) 0.82

Does apoptosis occur in amyotrophic lateral sclerosis? TUNEL experience from human amyotrophic lateral sclerosis (ALS) tissues. Folia Neuropathol (2005) 0.81

[A case of GH and TSH secreting pituitary macroadenoma]. Przegl Lek (2006) 0.81

The cerebral form of toxocarosis in a seven-year-old patient. Folia Neuropathol (2006) 0.81

Study of Cu chemical state inside single neurons from Parkinson's disease and control substantia nigra using the micro-XANES technique. J Trace Elem Med Biol (2008) 0.81

Biomolecular investigation of human substantia nigra in Parkinson's disease by synchrotron radiation Fourier transform infrared microspectroscopy. Arch Biochem Biophys (2007) 0.81

Melatonin and childhood refractory epilepsy--a pilot study. Med Sci Monit (2010) 0.81

Friedreich's ataxia. J Child Neurol (2002) 0.79

An integrated experimental and analytical approach to the chemical state imaging of iron in brain gliomas using X-ray absorption near edge structure spectroscopy. Anal Chim Acta (2011) 0.78

Intestinal anaerobic bacteria and autistic mind: is there some relations? Comment to: the autistic mind: a case study. Katarzyna Markiewicz, Bruce Duncan MacQueen. Med Sci Monit, 2009; 15(1): CS5-13. Med Sci Monit (2009) 0.78

Paraganglioma of the cauda equina presenting with erectile and sphincter dysfunction. J Chin Med Assoc (2009) 0.78

[Concentrations of cadmium in blood and urine and their contents in the hair of children from Katowice Murcki]. Wiad Lek (2002) 0.78

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations - a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review. Dev Period Med (2015) 0.77

Pituitary enlargement in patients with PROP1 gene inactivating mutation represents cystic hyperplasia of the intermediate pituitary lobe. Histopathology and over 10 years follow-up of two patients. J Pediatr Endocrinol Metab (2009) 0.77

[Myelosis funicularis as a result of secondary vitamin B12 deficiency in a 9-year-old girl]. Wiad Lek (2002) 0.77

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. Neurol Neurochir Pol (2008) 0.77

Platelet and intestinal 5-HT2A receptor mRNA in autistic spectrum disorders - results of a pilot study. Acta Neurobiol Exp (Wars) (2010) 0.77

Visualisation of the extent of damage in a rat spinal cord injury model using MR microsopy of the water diffusion tensor. Acta Neurobiol Exp (Wars) (2005) 0.77

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. J Appl Genet (2004) 0.77

Increased synphilin-1 expression in human elderly brains with substantia nigra Marinesco bodies. Pharmacol Rep (2009) 0.77

Neuropathological diagnosis of tumour and bridge card game: some personal remarks and considerations (Letter to the Editor). Folia Neuropathol (2005) 0.76

The oxidation states and chemical environments of iron and zinc as potential indicators of brain tumour malignancy grade - preliminary results. Metallomics (2013) 0.76

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance. J Appl Genet (2014) 0.76

Elemental micro-imaging and quantification of human substantia nigra using synchrotron radiation based x-ray fluorescence--in relation to Parkinson's disease. J Phys Condens Matter (2012) 0.76

Association between lipids and fibrinogen levels and ischemic stroke in the population of the Polish children with arteriopathy and cardiac disorders. Wiad Lek (2010) 0.76

[Congenital brain tumor in neonate--case report and review of literature]. Przegl Lek (2005) 0.76

Angelman syndrome revisited. Neurologist (2007) 0.76

Expression of cyclooxygenase-2 (COX-2) in pituitary tumours. Med Sci Monit (2012) 0.75

Torticollis as a first sign of posterior fossa and cervical spinal cord tumors in children. Childs Nerv Syst (2013) 0.75

Expanding the phenotype associated with missense mutations of the ARX gene. Am J Med Genet A (2013) 0.75

Classification of nerve cells from substantia nigra of patients with Parkinson's disease and amyotrophic lateral sclerosis with the use of X-ray fluorescence microscopy and multivariate methods. Anal Chem (2005) 0.75

[Neuroimaging in a chronic demyelination process following tick-borne encephalomyelitis]. Neurol Neurochir Pol (2003) 0.75

[Pituitary tumors: hormonal status and immunohistochemical evaluation]. Przegl Lek (2003) 0.75

[Usefulness of the "P.N." frame in biopsies and stereotactic operations on the brain]. Przegl Lek (2004) 0.75

Clinical and neuropathological picture of familial encephalopathy with bifunctional protein deficiency. Folia Neuropathol (2007) 0.75

[Back pain in children]. Wiad Lek (2008) 0.75

Uterus-like mass. Pol J Pathol (2010) 0.75

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting. Cleft Palate Craniofac J (2014) 0.75

[Molecular therapeutic strategies for Huntington's disease]. Postepy Biochem (2015) 0.75

[Multiple cerebral glioma or tumor dissemination via CSF pathways? Case report]. Neurol Neurochir Pol (2004) 0.75

New light on prions: putative role of co-operation of PrPc and Aβ proteins in cognition. Folia Neuropathol (2014) 0.75

[Diagnostic problems with long QT syndrome in 5-year-old boy]. Wiad Lek (2007) 0.75

[Direct surgical outcome of meningiomas obliterating the superior sagittal sinus]. Przegl Lek (2006) 0.75

[Sudden infant death syndrome--current opinions on etiology and pathogenesis]. Wiad Lek (2009) 0.75

[Juvenile dermatomyositis in 12 years old girl]. Wiad Lek (2005) 0.75

An attempt at evaluating borderline conditions of Parkinson's disease and its preclinical stage on the basis of clinical and morphological correlation. Folia Neuropathol (2002) 0.75

[Tuberculosis of the central nervous system: case reports]. Neurol Neurochir Pol (2003) 0.75

[The pharmacological treatment of abulic posttraumatic state in children-preliminary report]. Wiad Lek (2006) 0.75

[Niemann-Pick disease, type A: a case report]. Neurol Neurochir Pol (2006) 0.75

[Vertebral canal abscess as a complication of congenital sacral sinus in a two year old girl]. Neurol Neurochir Pol (2002) 0.75

Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma. Folia Neuropathol (2011) 0.75

Synchrotron radiation based X-ray fluorescence shows changes in the elemental composition of the human substantia nigra in aged brains. Metallomics (2015) 0.75

[Chickenpox--neurological complications in children]. Wiad Lek (2007) 0.75

Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report. Dev Period Med (2015) 0.75

[Neurocutaneous melanosis--case report]. Wiad Lek (2004) 0.75

Degeneration and calcification of the cervical endplate is connected with decreased expression of ANK, ENPP-1, OPN and TGF-β1 in the intervertebral disc. Pol J Pathol (2014) 0.75

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group. J Appl Genet (2005) 0.75

Stereotactic biopsy in surgically inaccessible tumors with the use of "P.N." type frame. Ann Acad Med Stetin (2007) 0.75

[Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation]. Neurol Neurochir Pol (2005) 0.75

[Vasovagal syncope--diagnostic difficulties in adolescents]. Wiad Lek (2006) 0.75

[Neuroimaging and clinical manifestations of herpes simplex encephalitis in children]. Neurol Neurochir Pol (2003) 0.75

[The function of eye and vision system in children and youth treated with vigabatrin--our own experiences]. Klin Oczna (2005) 0.75

[Herpes encephalitis at children]. Wiad Lek (2004) 0.75

CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions. J Child Neurol (2009) 0.75

Giant schwannoma of the cheek--a comprehensive histological and immunohistochemical description of a rare tumour. Pol J Pathol (2009) 0.75

Topoisomerase IIα as a prognostic factor in pituitary tumors. Pol Arch Med Wewn (2014) 0.75

[Situation-related seizures in patients at developmental age]. Wiad Lek (2008) 0.75

[Neurological picture and 1H MRS in 4 children with hypoparathyroidism]. Przegl Lek (2005) 0.75

[Morphological changes of the colon in patients with irritable bowel syndrome]. Przegl Lek (2012) 0.75

[Clinical and genetic study of juvenile form of Huntington's disease]. Neurol Neurochir Pol (2002) 0.75

First step toward the "fingerprinting" of brain tumors based on synchrotron radiation X-ray fluorescence and multiple discriminant analysis. J Biol Inorg Chem (2011) 0.75

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report. Neurol Neurochir Pol (2010) 0.75

Lipid raft disease? A new severe congenital myopathy. Folia Neuropathol (2007) 0.75

Maternal phenylketonuria. Wiad Lek (2009) 0.75

[Partial lipodystrophy with C3 complement deficiency in 8 years old girl]. Wiad Lek (2004) 0.75

[Nonfunctional pituitary adenoma and pulmonary sarcoidosis--a case report]. Przegl Lek (2002) 0.75

PTTG and Ki-67 expression in pituitary adenomas. Przegl Lek (2016) 0.75

Malformations of cortical development in children: clinical manifestation, neuroimaging and neuropathology in selected cases. Folia Neuropathol (2006) 0.75

[Treatment termination in children with idiopathic generalized epilepsy and cryptogenic focal epilepsy]. Przegl Lek (2003) 0.75