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Chronic inflammatory demyelinating polyneuropathy of childhood: clinical and neuroradiological findings

Neuroradiology, 2013-10, Vol.55 (10), p.1233-1239

2013

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A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family

European journal of neurology, 2013-07, Vol.20 (7), p.e94-e95

2013

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101. Thalidomide-related peripheral neurotoxicity: Not only a sensory axonal neuropathy

Clinical neurophysiology, 2015-01, Vol.126 (1), p.e23-e23

2015

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GDAP1 mutations in Italian axonal Charcot–Marie–Tooth patients: Phenotypic features and clinical course

Neuromuscular disorders : NMD, 2016-01, Vol.26 (1), p.26-32

2016

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51. Median and tibial nerve somatosensory evoked potentials study in a group of 60 achondroplasic children: Correlation to maturational and statural data

Clinical neurophysiology, 2015-01, Vol.126 (1), p.e12-e12

2015

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Long‐term survival in Stuve‐Wiedemann syndrome: A neuro‐myo‐skeletal disorder with manifestations of dysautonomia

American journal of medical genetics, 2003-05, Vol.118A (4), p.362-368

2003

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A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect

Journal of neurology, neurosurgery and psychiatry, 2004-10, Vol.75 (10), p.1495-1498

2004

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Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

European journal of paediatric neurology, 2000, Vol.4 (3), p.115-117

2000

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Extrapulmonary Complications of Mycoplasma pneumoniae Infection in Children

Infectious diseases in clinical practice (Baltimore, Md.), 2000-08, Vol.9 (6), p.257-260

2000

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Short Latency Evoked Somatosensory Potentials After Stimulation of the Median Nerve in Children: Normative Data

Journal of clinical neurophysiology, 2009-06, Vol.26 (3), p.176-182

2009

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A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy

Neuromuscular disorders : NMD, 1999-10, Vol.9 (6), p.403-407

1999

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Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes

Annals of neurology, 2001-09, Vol.50 (3), p.424-424

2001

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Thalidomide: efficacy and side effects in juvenile idiopathic arthritis (JIA)

Pediatric rheumatology online journal, 2008-09, Vol.6 (S1), p.P70-P70, Article P70

2008

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A novel compound heterozygous mutation of C20orf54 gene associated with B rown– V ialetto– V an L aere s yndrome in an I talian family

European journal of neurology, 2013-07, Vol.20 (7)

2013

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Childhood sarcoidosis presenting with prevalent muscular symptoms: report of a case

European journal of pediatrics, 1997-04, Vol.156 (4), p.340

1997

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104. Assessment of distal compound muscle action potential duration (DCMAPD) in paediatric chronic inflammatory demyelinating polyneuropathy (CIDP)

Clinical neurophysiology, 2015-01, Vol.126 (1), p.e24-e24

2015

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PP08.15 – 2965: Demyelinating diseases in pediatric population: Single center experience

European journal of paediatric neurology, 2015-05, Vol.19, p.S64-S64

2015

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Gamma-aminobutyric acid synthesis in erythrocytes of Testudo hermanni gmelin

Comparative biochemistry and physiology. C, Comparative pharmacology, 1978, Vol.61 (2), p.281-282

1978

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Is clinical variability in CMT1A related to epigenetic factors?

Journal of the peripheral nervous system, 2004-06, Vol.9 (2), p.111-111

2004

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Monitoring of pregnancies at risk for Fanconi's anemia by chorionic villi sampling

Acta haematologica, 1985, Vol.73 (3), p.157

1985

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AFP and chromosomal diseases

The Journal of nuclear medicine and allied sciences, 1989-07, Vol.33 (3 Suppl), p.67

1989

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The D355V Mutation Decreases EGR2 Binding To An Element Within The CX32 Promoter

Journal of the peripheral nervous system, 2001-03, Vol.6 (1), p.53-53

2001

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Cultures from thymus and liver cells and blood lymphocytes for chromosome analysis in human abortions

Bollettino dell'Istituto sieroterapico milanese, 1978-11, Vol.57 (5), p.650

1978

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Acute urinary retention in a child with acute disseminated encephalomyelitis

Minerva pediatrica, 2006-06, Vol.58 (3), p.305

2006

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Electroneuronographic study on metabolic diseases

Pediatric neurology, 1992-09, Vol.8 (5), p.407-408

1992

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Chronic inflammatory demyelinating polyneuropathy of childhood: clinical and neuroradiological findings

A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family

101. Thalidomide-related peripheral neurotoxicity: Not only a sensory axonal neuropathy

GDAP1 mutations in Italian axonal Charcot–Marie–Tooth patients: Phenotypic features and clinical course

51. Median and tibial nerve somatosensory evoked potentials study in a group of 60 achondroplasic children: Correlation to maturational and statural data

Long‐term survival in Stuve‐Wiedemann syndrome: A neuro‐myo‐skeletal disorder with manifestations of dysautonomia

A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

Extrapulmonary Complications of Mycoplasma pneumoniae Infection in Children

Short Latency Evoked Somatosensory Potentials After Stimulation of the Median Nerve in Children: Normative Data

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy

Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes

Thalidomide: efficacy and side effects in juvenile idiopathic arthritis (JIA)

A novel compound heterozygous mutation of C20orf54 gene associated with B rown– V ialetto– V an L aere s yndrome in an I talian family

Childhood sarcoidosis presenting with prevalent muscular symptoms: report of a case

104. Assessment of distal compound muscle action potential duration (DCMAPD) in paediatric chronic inflammatory demyelinating polyneuropathy (CIDP)

PP08.15 – 2965: Demyelinating diseases in pediatric population: Single center experience

Gamma-aminobutyric acid synthesis in erythrocytes of Testudo hermanni gmelin

Is clinical variability in CMT1A related to epigenetic factors?

Monitoring of pregnancies at risk for Fanconi's anemia by chorionic villi sampling

AFP and chromosomal diseases

The D355V Mutation Decreases EGR2 Binding To An Element Within The CX32 Promoter

Cultures from thymus and liver cells and blood lymphocytes for chromosome analysis in human abortions

Acute urinary retention in a child with acute disseminated encephalomyelitis

Electroneuronographic study on metabolic diseases

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