Literature DB >> 8411966

Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria.

P Santavuori1, S L Vanhanen, K Sainio, M Nieminen, T Wallden, J Launes, R Raininko.   

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Year:  1993        PMID: 8411966     DOI: 10.1007/bf00710250

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  12 in total

1.  Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses.

Authors:  J Brismar; G Brismar; R Coates; G Gascon; P Ozand
Journal:  AJNR Am J Neuroradiol       Date:  1990 Jan-Feb       Impact factor: 3.825

2.  CT findings in neuronal ceroid lipofuscinoses.

Authors:  R Raininko; P Santavuori; H Heiskala; K Sainio; J Palo
Journal:  Neuropediatrics       Date:  1990-05       Impact factor: 1.947

3.  The Rett syndrome: progress report on studies at the Kennedy Institute.

Authors:  S Naidu; S Hyman; K Piazza; J Savedra; J Perman; G Wenk; C Kitt; J Troncoso; D Price; M Cassanova
Journal:  Brain Dev       Date:  1990       Impact factor: 1.961

4.  EEG in the infantile type of so-called neuronal ceroid-lipofuscinosis.

Authors:  P Santavuori
Journal:  Neuropadiatrie       Date:  1973-12

5.  Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies.

Authors:  M Haltia; J Rapola; P Santavuori
Journal:  Acta Neuropathol       Date:  1973-10-11       Impact factor: 17.088

6.  DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

Authors:  I Järvelä; J Rapola; L Peltonen; L Puhakka; J Vesa; P Ammälä; R Salonen; M Ryynänen; P Haring; A Mustonen
Journal:  Prenat Diagn       Date:  1991-05       Impact factor: 3.050

7.  MRI of the brain, EEG sleep spindles and SPECT in the early diagnosis of infantile neuronal ceroid lipofuscinosis.

Authors:  P Santavuori; R Raininko; S L Vanhanen; J Launes; K Sainio
Journal:  Dev Med Child Neurol       Date:  1992-01       Impact factor: 5.449

8.  Cranial computed tomographic and magnetic resonance imaging studies on the Rett syndrome.

Authors:  K Nihei; H Naitoh
Journal:  Brain Dev       Date:  1990       Impact factor: 1.961

Review 9.  Neuronal ceroid-lipofuscinoses in childhood.

Authors:  P Santavuori
Journal:  Brain Dev       Date:  1988       Impact factor: 1.961

10.  Batten disease: past, present, and future.

Authors:  J A Rider; D L Rider
Journal:  Am J Med Genet Suppl       Date:  1988
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  8 in total

1.  MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.

Authors:  E H Baker; S W Levin; Z Zhang; A B Mukherjee
Journal:  AJNR Am J Neuroradiol       Date:  2016-10-20       Impact factor: 3.825

2.  Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia.

Authors:  Ning Miao; Sondra W Levin; Eva H Baker; Rafael C Caruso; Zhongjian Zhang; Andrea Gropman; Deloris Koziol; Robert Wesley; Anil B Mukherjee; Zenaide M N Quezado
Journal:  Anesth Analg       Date:  2009-08       Impact factor: 5.108

3.  Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.

Authors:  Sondra W Levin; Eva H Baker; Wadih M Zein; Zhongjian Zhang; Zenaide M N Quezado; Ning Miao; Andrea Gropman; Kurt J Griffin; Simona Bianconi; Goutam Chandra; Omar I Khan; Rafael C Caruso; Aiyi Liu; Anil B Mukherjee
Journal:  Lancet Neurol       Date:  2014-07-02       Impact factor: 44.182

4.  NCL diseases - clinical perspectives.

Authors:  Angela Schulz; Alfried Kohlschütter; Jonathan Mink; Alessandro Simonati; Ruth Williams
Journal:  Biochim Biophys Acta       Date:  2013-04-17

5.  Synergistic effects of treating the spinal cord and brain in CLN1 disease.

Authors:  Charles Shyng; Hemanth R Nelvagal; Joshua T Dearborn; Jaana Tyynelä; Robert E Schmidt; Mark S Sands; Jonathan D Cooper
Journal:  Proc Natl Acad Sci U S A       Date:  2017-07-03       Impact factor: 11.205

6.  Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.

Authors:  Ashleigh Bouchelion; Zhongjian Zhang; Yichao Li; Haohua Qian; Anil B Mukherjee
Journal:  Ann Clin Transl Neurol       Date:  2014-11-18       Impact factor: 4.511

Review 7.  NCLs and ER: A stressful relationship.

Authors:  Davide Marotta; Elisa Tinelli; Sara E Mole
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2017-04-06       Impact factor: 5.187

8.  Evaluation of disease progression in INCL by MR spectroscopy.

Authors:  Eva H Baker; Sondra W Levin; Zhongjian Zhang; Anil B Mukherjee
Journal:  Ann Clin Transl Neurol       Date:  2015-07-01       Impact factor: 4.511

  8 in total

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