Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.

PubWeight™: 0.95‹?› | Rank: Top 15%

🔗 View Article (PMID 14745065)

Published in Neurology on January 27, 2004

Authors

C Casali1, E M Valente, E Bertini, G Montagna, C Criscuolo, G De Michele, M Villanova, M Damiano, A Pierallini, F Brancati, V Scarano, A Tessa, F Cricchi, G S Grieco, M Muglia, M Carella, B Martini, A Rossi, G A Amabile, G Nappi, A Filla, B Dallapiccola, F M Santorelli

Author Affiliations

1: Department of Neurology and ORL, La Sapienza University, Rome, Italy. carlo.casali@uniroma1.it

Articles citing this

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet (2008) 1.79

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics (2010) 1.02

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics (2006) 1.00

Hereditary spastic paraplegia with a thin corpus callosum. Pediatr Radiol (2007) 0.90

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis. Brain (2015) 0.90

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. Neurogenetics (2007) 0.88

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. Neurogenetics (2010) 0.85

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. Eur J Hum Genet (2016) 0.81

Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI. Neuroradiology (2006) 0.78

Complicated hereditary spastic paraplegia with thin corpus callosum: variation of phenotypic expression over time. J Neurol (2004) 0.75

Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases. Sultan Qaboos Univ Med J (2013) 0.75

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11. Cold Spring Harb Mol Case Stud (2016) 0.75

Articles by these authors

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 11.59

Combination chemotherapy as an adjuvant treatment in operable breast cancer. N Engl J Med (1976) 9.68

Comparison of the genomes of two Xanthomonas pathogens with differing host specificities. Nature (2002) 8.42

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet (1997) 6.85

New appendix criteria open for a broader concept of chronic migraine. Cephalalgia (2006) 5.97

Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med (2000) 4.98

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci (1997) 4.50

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 4.41

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet (2000) 3.87

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature (1989) 3.75

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet (1996) 3.14

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet (2000) 3.08

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet (2000) 2.96

The International Classification of Headache Disorders, 2nd Edition (ICHD-II)--revision of criteria for 8.2 Medication-overuse headache. Cephalalgia (2005) 2.86

The Italian multicentre study on noninvasive ventilation in chronic obstructive pulmonary disease patients. Eur Respir J (2002) 2.84

Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Am J Med Genet (1994) 2.68

Pachydermoperiostosis: an update. Clin Genet (2005) 2.65

Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet (1994) 2.55

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Hum Mol Genet (1999) 2.41

A chart of failure risk for noninvasive ventilation in patients with COPD exacerbation. Eur Respir J (2005) 2.39

The CMF program for operable breast cancer with positive axillary nodes. Updated analysis on the disease-free interval, site of relapse and drug tolerance. Cancer (1977) 2.33

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33

Safety of sentinel node biopsy in pregnant patients with breast cancer. Ann Oncol (2004) 2.31

Estimation of oxygen delivery in newborns with a univentricular circulation. Circulation (1998) 2.26

Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord (2008) 2.23

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr (1999) 2.18

Refined crystal structure of ascorbate oxidase at 1.9 A resolution. J Mol Biol (1992) 2.18

Reduced habituation of trigeminal reflexes in patients with episodic cluster headache during cluster period. Cephalalgia (2008) 2.18

Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13

Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Hum Reprod Update (1999) 2.12

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11

Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol (1988) 2.08

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology (2011) 2.06

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06

Alteration of the platelet serotonin transporter in romantic love. Psychol Med (1999) 2.02

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. J Med Genet (2004) 2.02

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology (2007) 1.93

X-ray crystal structure of the blue oxidase ascorbate oxidase from zucchini. Analysis of the polypeptide fold and a model of the copper sites and ligands. J Mol Biol (1989) 1.90

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89

P0.1 is a useful parameter in setting the level of pressure support ventilation. Intensive Care Med (1995) 1.88

Three-year assessment of methicillin-resistant Staphylococcus aureus clones in Latin America from 1996 to 1998. J Clin Microbiol (2001) 1.88

Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. AJNR Am J Neuroradiol (1999) 1.86

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology (2005) 1.85

Reliability of the nitroglycerin provocative test in the diagnosis of neurovascular headaches. Cephalalgia (2004) 1.83

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet (1995) 1.82

Cervicogenic headache: evaluation of the original diagnostic criteria. Cephalalgia (2001) 1.81

Familial cardiomyopathy underlies syndrome of right bundle branch block, ST segment elevation and sudden death. J Am Coll Cardiol (1996) 1.80

Characteristics of menstrual and nonmenstrual attacks in women with menstrually related migraine referred to headache centres. Cephalalgia (2004) 1.79

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet (2001) 1.78

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet (1997) 1.77

RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74

Ascending aorta-abdominal aorta bypass: indications, technique, and report of 12 patients. Ann Thorac Surg (1977) 1.73

Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73

Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet (1994) 1.73

Headache attributed to infection: observations on the IHS classification (ICHD-II). Cephalalgia (2006) 1.69

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A (2001) 1.69

Idiopathic cerebellar ataxia associated with celiac disease: lack of distinctive neurological features. J Neurol Neurosurg Psychiatry (1999) 1.68

Proposals for new standardized general diagnostic criteria for the secondary headaches. Cephalalgia (2009) 1.68

SVCT1 and SVCT2: key proteins for vitamin C uptake. Amino Acids (2007) 1.67

Functional changes of the basal ganglia circuitry in Parkinson's disease. Prog Neurobiol (2000) 1.65

Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs. Neurology (2009) 1.65

The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. Cell Death Differ (2010) 1.63

Physiologic effects of positive end-expiratory pressure and mask pressure support during exacerbations of chronic obstructive pulmonary disease. Am J Respir Crit Care Med (1994) 1.63

The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology (2004) 1.63

Prognostic value of a Doppler index combining systolic and diastolic performance in idiopathic-dilated cardiomyopathy. Am J Cardiol (1998) 1.60

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr (1994) 1.59

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology (1997) 1.58

Electrophysiological features and the clinical follow-up of patients affected by ventricular tachycardias. Pacing Clin Electrophysiol (1991) 1.58

Neurophysiological classification and sensitivity in 500 carpal tunnel syndrome hands. Acta Neurol Scand (1997) 1.57

Striking differences between the kinetics of regulation of respiration by ADP in slow-twitch and fast-twitch muscles in vivo. Eur J Biochem (1996) 1.56

International Headache Society classification: interobserver reliability in the diagnosis of primary headaches. Cephalalgia (1994) 1.55

Disability, anxiety and depression associated with medication-overuse headache can be considerably reduced by detoxification and prophylactic treatment. Results from a multicentre, multinational study (COMOESTAS project). Cephalalgia (2013) 1.55

Molecular epidemiologic characterization of penicillin-resistant Streptococcus pneumoniae invasive pediatric isolates recovered in six Latin-American countries: an overview. PAHO/Rockefeller University Workshop. Pan American Health Organization. Microb Drug Resist (1998) 1.54

The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clin Genet (1988) 1.54

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology (2008) 1.53

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet (2003) 1.53

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics (2007) 1.53

Mutation in a calpain-like protease affects the posttranslational mannosylation of phosphatases in Aspergillus nidulans. Fungal Genet Biol (2003) 1.52

Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. Pediatr Cardiol (1997) 1.52

Peripheral proteasome and caspase activity in Parkinson disease and Alzheimer disease. Neurology (2006) 1.51