M Ruggieri

Summary

Country: Italy

Publications

  1. ncbi Hypomelanosis of Ito: clinical syndrome or just phenotype?
    M Ruggieri
    Department of Paediatrics, University of Catania, Italy
    J Child Neurol 15:635-44. 2000
  2. ncbi Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient
    A Polizzi
    Division of Paediatric Neurology, Paediatric Clinic Institute of Human Embryology, University of Catania, Italy
    Dev Med Child Neurol 41:51-4. 1999
  3. ncbi The different forms of neurofibromatosis
    M Ruggieri
    Divisione di Neurologia Pediatrica, Dipartimento di Pediatria, Universita di Catania, Italy
    Childs Nerv Syst 15:295-308. 1999
  4. ncbi Multiple coronary artery aneurysms in a child with neurofibromatosis type 1
    M Ruggieri
    Department of Paediatrics, University of Catania, Italy
    Eur J Pediatr 159:477-80. 2000
  5. ncbi Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype
    M Ruggieri
    Department of Paediatrics, University of Catania, Italy
    Eur J Pediatr 159:745-9. 2000
  6. pmc Acute ataxia complicating Langherans cell histiocytosis
    A Polizzi
    Department of Paediatrics, University of Catania, Italy
    Arch Dis Child 86:130-1. 2002
  7. ncbi Dystonia as acute adverse reaction to cough suppressant in a 3-year-old girl
    A Polizzi
    Department of Paediatrics, University of Catania, Italy
    Eur J Paediatr Neurol 5:167-8. 2001
  8. doi Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases
    E Lionetti
    Department of Paediatrics, University of Catania, Catania, Italy
    Neuropediatrics 41:60-5. 2010
  9. ncbi Lack of progression of brain atrophy in Aicardi-Goutières syndrome
    A Polizzi
    Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Catania, Italy
    Pediatr Neurol 24:300-2. 2001
  10. doi A syndrome with coarse face, mental retardation and unusual stereotyped movements*
    P Pavone
    Department of Pediatrics, University of Catania, Italy
    Neuropediatrics 40:186-8. 2009

Collaborators

Detail Information

Publications15

  1. ncbi Hypomelanosis of Ito: clinical syndrome or just phenotype?
    M Ruggieri
    Department of Paediatrics, University of Catania, Italy
    J Child Neurol 15:635-44. 2000
    ....
  2. ncbi Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient
    A Polizzi
    Division of Paediatric Neurology, Paediatric Clinic Institute of Human Embryology, University of Catania, Italy
    Dev Med Child Neurol 41:51-4. 1999
    ....
  3. ncbi The different forms of neurofibromatosis
    M Ruggieri
    Divisione di Neurologia Pediatrica, Dipartimento di Pediatria, Universita di Catania, Italy
    Childs Nerv Syst 15:295-308. 1999
    ..In this article I will review the different forms of neurofibromatosis, focusing on those aspects that most commonly challenge the neurosurgeon...
  4. ncbi Multiple coronary artery aneurysms in a child with neurofibromatosis type 1
    M Ruggieri
    Department of Paediatrics, University of Catania, Italy
    Eur J Pediatr 159:477-80. 2000
    ..Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction...
  5. ncbi Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype
    M Ruggieri
    Department of Paediatrics, University of Catania, Italy
    Eur J Pediatr 159:745-9. 2000
    ..The rest of the skin had a normal intermediate pigmentation...
  6. pmc Acute ataxia complicating Langherans cell histiocytosis
    A Polizzi
    Department of Paediatrics, University of Catania, Italy
    Arch Dis Child 86:130-1. 2002
    ..In retrospect, the acute ataxia was diagnosed as a paraneoplastic phenomenon secondary to Langherans cell histiocytosis (LCH). This represents a unique occurrence complicating LCH in childhood...
  7. ncbi Dystonia as acute adverse reaction to cough suppressant in a 3-year-old girl
    A Polizzi
    Department of Paediatrics, University of Catania, Italy
    Eur J Paediatr Neurol 5:167-8. 2001
    ..We report on a 3-year-old girl who presented with episodic stiffness and abnormal posturing with rigidity after arbitrary maternal administration of a mixture of methylcodeine and extract from Hedera plant...
  8. doi Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases
    E Lionetti
    Department of Paediatrics, University of Catania, Catania, Italy
    Neuropediatrics 41:60-5. 2010
    ..g., vascular) skin disturbances...
  9. ncbi Lack of progression of brain atrophy in Aicardi-Goutières syndrome
    A Polizzi
    Division of Paediatric Neurology, Department of Paediatrics, University of Catania, Catania, Italy
    Pediatr Neurol 24:300-2. 2001
    ....
  10. doi A syndrome with coarse face, mental retardation and unusual stereotyped movements*
    P Pavone
    Department of Pediatrics, University of Catania, Italy
    Neuropediatrics 40:186-8. 2009
    ..Routine and full metabolic serum and urine analyses, full ophthalmological examination, internal organs ultrasound examination, full skeletal survey, standard karyotype and array-CGH analysis yielded normal results...
  11. ncbi Recurrent peptic ulcer disease in a pediatric patient with type 1 neurofibromatosis and primary ciliary dyskinesia
    E Lionetti
    Department of Pediatrics, University of Catania, Catania, Italy
    Minerva Pediatr 61:557-9. 2009
    ....
  12. ncbi A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies
    P Pavone
    Department of Paediatrics, University of Catania, Italy
    Neuropediatrics 36:279-83. 2005
    ..To the best of our knowledge, however, this complex constellation of nervous system, skeletal and skin abnormalities has not been previously reported...
  13. ncbi Lipoid proteinosis: a case report
    R Rizzo
    Pediatric Clinic, University of Catania, Italy
    Pediatr Dermatol 14:22-5. 1997
    ..The mother had papulonodular lesions on her hands and also complained of slowness in healing...
  14. ncbi Epilepsy is not a prominent feature of primary autism
    P Pavone
    Department of Paediatrics, University of Catania, Italy
    Neuropediatrics 35:207-10. 2004
    ..4 %] vs. secondary autism [10/18 or 55 %])...
  15. ncbi Autoimmune thyroiditis and acquired demyelinating polyradiculoneuropathy
    A Polizzi
    Department of Paediatrics, University of Catania, Via S. Sofia, 78, I-95123, Catania, Italy
    Clin Neurol Neurosurg 103:151-4. 2001
    ..0004%), thus suggesting common pathogenic mediators...