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CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis

Neurology, 2000-05, Vol.54 (9), p.1828-1832

2000

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Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis

Neurology, 2001-10, Vol.57 (8), p.1411-1416

2001

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Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease

Neuropediatrics, 2004-02, Vol.35 (1), p.27-35

2004

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A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL

Molecular genetics and metabolism, 1999-04, Vol.66 (4), p.240-244

1999

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MRI of neuronal ceroid lipofuscinosis : I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis

Neuroradiology, 1996-07, Vol.38 (5), p.476-482

1996

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MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

Neuroradiology, 1997-05, Vol.39 (5), p.371-377

1997

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Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR

American journal of neuroradiology : AJNR, 1994-09, Vol.15 (8), p.1443-1453

1994

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The normal brain stem from infancy to old age : a morphometric MRI study

Neuroradiology, 1994-07, Vol.36 (5), p.364-368

1994

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Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder

Neuropediatrics, 1994-10, Vol.25 (5), p.238-244

1994

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Psychological symptoms and sleep disturbances in neuronal ceroid‐lipofuscinoses (NCL)

Journal of inherited metabolic disease, 1993-03, Vol.16 (2), p.245-248

1993

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MRI of the normal brain from early childhood to middle age. I: Appearances on T2- and proton density-weighted images and occurrence of incidental high-signal foci

Neuroradiology, 1994-11, Vol.36 (8), p.644-648

1994

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MRI of the normal brain from early childhood to middle age. II: Age dependence of signal intensity changes on T2-weighted images

Neuroradiology, 1994-11, Vol.36 (8), p.649-651

1994

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Brain perfusion SPECT abnormalities in neuronal ceroid lipofuscinoses

Neuropediatrics, 1997-02, Vol.28 (1), p.71-73

1997

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Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL)

Neuropediatrics, 1997-02, Vol.28 (1), p.77-79

1997

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Brain perfusion SPECT in infantile neuronal ceroid-lipofuscinosis (INCL). Comparison with clinical manifestations and MRI findings

Neuropediatrics, 1996-04, Vol.27 (2), p.76-83

1996

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Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders

European journal of paediatric neurology, 2001, Vol.5, p.157-161

2001

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MRI Of the Brain, EEG Sleep Spindles and SPECT in the Early Diagnosis of Infantile Neuronal Ceroid Lipofuscinosis

Developmental medicine and child neurology, 1992-01, Vol.34 (1), p.61-65

1992

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EEG and evoked potentials in infantile neuronal ceroid‐lipofuscinosis

Developmental medicine and child neurology, 1997-07, Vol.39 (7), p.456-463

1997

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Magnetic resonance techniques in neuronal ceroid lipofuscinoses and some other lysosomal diseases affecting the brain

Current opinion in neurology, 1997-12, Vol.10 (6), p.519

1997

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Aspartylglucosaminuria: Radiologic Course of the Disease With Histopathologic Correlation

Journal of child neurology, 1997-09, Vol.12 (6), p.369-375

1997

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Infantile neuronal ceroid‐lipofuscinosis (INCL): Diagnostic criteria

Journal of inherited metabolic disease, 1993-03, Vol.16 (2), p.227-229

1993

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Infantile neuronal ceroid-lipofuscinosis (INCL) : diagnostic criteria

Journal of inherited metabolic disease, 1993-03, Vol.16 (2), p.227-229

1993

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MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis: Part 2: MRI Findings in 21 Patients

Journal of child neurology, 1995-11, Vol.10 (6), p.444-450

1995

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Skeletal dysplasia presenting as a neuromuscular disorder – report of three children

Neuromuscular disorders : NMD, 2007-03, Vol.17 (3), p.231-234

2007

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MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis. Part 1: Postmortem MRI With Histopathologic Correlation

Journal of child neurology, 1995-11, Vol.10 (6), p.438-443

1995

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CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis

Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis

Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease

A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL

MRI of neuronal ceroid lipofuscinosis : I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis

MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR

The normal brain stem from infancy to old age : a morphometric MRI study

Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder

Psychological symptoms and sleep disturbances in neuronal ceroid‐lipofuscinoses (NCL)

MRI of the normal brain from early childhood to middle age. I: Appearances on T2- and proton density-weighted images and occurrence of incidental high-signal foci

MRI of the normal brain from early childhood to middle age. II: Age dependence of signal intensity changes on T2-weighted images

Brain perfusion SPECT abnormalities in neuronal ceroid lipofuscinoses

Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL)

Brain perfusion SPECT in infantile neuronal ceroid-lipofuscinosis (INCL). Comparison with clinical manifestations and MRI findings

Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders

MRI Of the Brain, EEG Sleep Spindles and SPECT in the Early Diagnosis of Infantile Neuronal Ceroid Lipofuscinosis

EEG and evoked potentials in infantile neuronal ceroid‐lipofuscinosis

Magnetic resonance techniques in neuronal ceroid lipofuscinoses and some other lysosomal diseases affecting the brain

Aspartylglucosaminuria: Radiologic Course of the Disease With Histopathologic Correlation

Infantile neuronal ceroid‐lipofuscinosis (INCL): Diagnostic criteria

Infantile neuronal ceroid-lipofuscinosis (INCL) : diagnostic criteria

MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis: Part 2: MRI Findings in 21 Patients

Skeletal dysplasia presenting as a neuromuscular disorder – report of three children

MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis. Part 1: Postmortem MRI With Histopathologic Correlation

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