| Nome |
# |
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Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder, file 0b799ac7-0880-4cfd-9e53-fc1a7562b212
|
133
|
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KARS-related diseases: Progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature, file dfa8b99b-bd27-748b-e053-3a05fe0a3a96
|
126
|
|
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features, file dfa8b9a6-8650-748b-e053-3a05fe0a3a96
|
117
|
|
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome, file dfa8b9a7-3219-748b-e053-3a05fe0a3a96
|
86
|
|
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report, file dfa8b991-a477-748b-e053-3a05fe0a3a96
|
74
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|
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring, file 71d4230a-c80a-419e-bc44-8e8eba4958a9
|
54
|
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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial, file b3104415-cded-49c9-b4e5-a810e90be56e
|
53
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Redox Imbalance in Neurological Disorders in Adults and Children, file 23ba3c45-eb6e-498f-9b4d-a94c1a1601e0
|
42
|
|
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function, file e7caf0e5-1731-46e5-95a3-c1c4ecb0e8b3
|
35
|
|
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period, file 785592fe-532c-4638-8507-4ca69981fcd1
|
26
|
|
Neurotransmitter abnormalities and response to supplementation in SPG11, file 9639cfa2-d870-4e35-8cfe-2b5c26e95c1c
|
24
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|
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study, file 90d9ff95-e14c-4e39-aa37-7509006c069f
|
19
|
|
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy, file 594cb3dc-2fc6-4a1a-9601-066ebbfe55fd
|
17
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|
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation, file 4e8c4d18-4ca3-4dfd-8368-328030c23627
|
16
|
|
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review, file 4eed2ed7-ae0a-485a-9231-360faf61e39a
|
15
|
|
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation, file 10abef3d-6447-4db8-bf0d-b2952f133c03
|
14
|
|
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders, file 11042365-1a71-4f40-b212-d15dde0f34c5
|
12
|
|
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child, file 6753966d-7902-434e-a39f-f23b9f185e50
|
10
|
|
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations, file 0a01ca71-8459-441f-86fd-a46022ee91f8
|
7
|
|
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function, file 716c8b84-3f10-49f1-b2de-ac685cda9200
|
6
|
|
Altered PLP1 splicing causes hypomyelination of early myelinating structures, file a398ce43-bdb8-46f8-8326-a2e9e44311c1
|
6
|
|
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency, file dfa8b9a3-69b2-748b-e053-3a05fe0a3a96
|
5
|
|
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations, file 0eec14ec-83f0-4cd5-8b50-3fc3c5bc23f4
|
4
|
|
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization, file 9b6f17da-eb4a-479a-ba75-41d0cb2a9803
|
4
|
|
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome : diagnostic and disease-monitoring implications, file dfa8b99e-5f13-748b-e053-3a05fe0a3a96
|
4
|
|
The epileptology of Aicardi-Goutières syndrome : electro-clinical-radiological findings, file dfa8b9a5-d570-748b-e053-3a05fe0a3a96
|
4
|
|
More Than Hypomyelination in Pol-III Disorder, file 2030155a-4bcc-4486-aeec-badf215a331d
|
3
|
|
Endocrine and growth abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C, file 31007f7a-a68e-4d53-8903-9b44d3d27a2e
|
3
|
|
I deficit di vitamina B12 di origine materna nel neonato: sfide attuali e future = Neonatal cobalamin deficiency secondary to maternal causes: today and future challenges, file 3606947a-b792-457d-9081-5fb4c6c8b555
|
3
|
|
RARS1-related hypomyelinating leukodystrophy : Expanding the spectrum, file 3ca6045a-0589-4af6-9973-617e8b143fba
|
3
|
|
Dysregulation of the immune system in Aicardi-Goutieres syndrome: another example in a TREX1-mutated patient, file 98d02a56-a92c-4ee6-b799-9cbc342e83cb
|
3
|
|
COL4A1 mutations associated with a characteristic pattern of intracranial calcification, file a6daa321-c090-49e8-ab73-382e09ac5c12
|
3
|
|
Endocrine and growth abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C, file c8205863-9836-4afa-a5c8-4731d4c9e81f
|
3
|
|
New spastic paraplegia phenotype associated to mutation of NFU1, file d7648104-effe-43e6-ae18-05be4910394b
|
3
|
|
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction, file 08689954-c63a-44eb-b674-50c48f2e4c13
|
2
|
|
Altered PLP1 splicing causes hypomyelination of early myelinating structures, file 45e09bd6-23a3-4af9-adc5-2631a3dc7b0a
|
2
|
|
null, file a81de76e-4c35-4840-bbb3-8a5a2cfe1e79
|
2
|
|
Calcifying leukoencephalopathies: new overlapping phenotypes, file a84fb9c5-9f82-44f3-b0cc-6d241ff6e239
|
2
|
|
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies, file b5d79eac-bc6c-4f69-aff9-b28d842331b9
|
2
|
|
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study, file ba4d75c8-58d1-461b-be91-bd9fe68da98d
|
2
|
|
null, file d176f827-ab3d-4051-a06a-9b61bafeafb9
|
2
|
|
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum, file dfa8b9a5-d56e-748b-e053-3a05fe0a3a96
|
2
|
|
Ruxolitinib in Aicardi-Goutières syndrome, file dfa8b9a5-e6b0-748b-e053-3a05fe0a3a96
|
2
|
|
Impact of COVID-19 lockdown in children with neurological disorders in Italy, file dfa8b9a7-e17f-748b-e053-3a05fe0a3a96
|
2
|
|
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach, file fab29ec2-741c-4a63-b677-bf60d83cc78f
|
2
|
|
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings, file 038e0964-fa45-4f98-bd13-382493b2992b
|
1
|
|
SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients, file 0685499b-d071-4f05-ba79-f1f4c9b29acb
|
1
|
|
Bilateral Striatal Necrosis in Two Subjects With Aicardi-Goutieres Syndrome due to Mutations in ADAR1 (AGS6), file 0dd74be7-7a3a-482c-a7e7-1f411914bc06
|
1
|
|
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome, file 0e34b244-7b12-4219-b91f-beef839d04b7
|
1
|
|
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy, file 1447e4e9-28ed-49d1-8e7a-5df710116e15
|
1
|
|
Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al, file 19757d3d-4fcd-43ac-b116-599d598c803d
|
1
|
|
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients, file 1e709bee-3749-46fd-98ef-8094cc2a8b65
|
1
|
|
Bilateral Striatal Necrosis in Two Subjects With Aicardi-Goutieres Syndrome due to Mutations in ADAR1 (AGS6), file 268684b3-6227-45b6-ae38-83c6c696fd81
|
1
|
|
Novel and emerging treatments for Aicardi-Goutières syndrome, file 30aefe03-f8d1-47fe-afeb-ca03b3473bef
|
1
|
|
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency, file 32cbebbc-ed6f-4c7c-8f1a-fce6d2bf0caf
|
1
|
|
Expanding the Spectrum of NUBPL-Related Leukodystrophy, file 42de41a9-6650-446f-b652-37fc511d9d16
|
1
|
|
Case definition and classification of leukodystrophies and leukoencephalopathies, file 5001b4f6-9342-4749-9088-4a5c313c9ce0
|
1
|
|
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A, file 5cbfc4db-a8c4-4ccd-9272-17884e8c57e3
|
1
|
|
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients, file 6166e401-f661-4be4-ba98-557f25a64d5b
|
1
|
|
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS, file 6332d382-c456-4e6b-84f2-2cacacf60780
|
1
|
|
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study, file 63bb1586-ef04-4ded-8bd2-738db962dbc2
|
1
|
|
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing, file 6c995b19-e08c-4225-af49-a7c2d9df77dd
|
1
|
|
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy, file 7025cf28-a510-4da2-8baa-f7744453bb45
|
1
|
|
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome, file 7172c863-9d9d-4ca0-ae5b-abe0a6e729e8
|
1
|
|
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation, file 72f2df3b-5ee8-4a6e-a376-37f7d968ddee
|
1
|
|
Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis, file 814abf9c-f246-44e4-a851-813d4881be4d
|
1
|
|
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience, file 8b00faf0-fc6c-449e-a99c-5411ca91d953
|
1
|
|
Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration, file 950511cd-3dac-487d-9891-42622f227196
|
1
|
|
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots, file 97366fbc-cf30-4b56-b9a7-45fe53a591e0
|
1
|
|
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers, file a59e56f0-e81c-44bc-b358-f7b750081152
|
1
|
|
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features, file a9c8f26a-c69e-46a0-a779-cff91084839a
|
1
|
|
New Case of 4H Syndrome and a Review of the Literature, file b1416bdf-9ed6-477c-9d2b-ebaa8f1552ea
|
1
|
|
How to look for intracranial calcification in children with neurological disorders: {CT}, {MRI}, or both of them?, file b707ee48-5f79-4f8a-8890-39ae36f8ad45
|
1
|
|
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease, file bd858945-6a2c-45dd-8d5c-7b58bf3d6a08
|
1
|
|
Cortical malformations and COL4A1 mutation: Three new cases, file c0d0deed-7f94-414c-81b6-d904d38c92b9
|
1
|
|
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events, file c2893fc7-169a-45fe-b1cc-59d23a004c7c
|
1
|
|
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS, file cc193ed3-d232-483e-9a48-0d3d9f5f423d
|
1
|
|
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis, file dfa8b99b-0c2c-748b-e053-3a05fe0a3a96
|
1
|
|
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features, file dfa8b9a6-ccef-748b-e053-3a05fe0a3a96
|
1
|
|
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation, file dfa8b9a6-ec8e-748b-e053-3a05fe0a3a96
|
1
|
|
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum, file e8413706-e093-4936-b4be-00e00b13c14a
|
1
|
|
Type I Alexander disease: Update and validation of the clinical evolution-based classification, file ed5ad1a0-e4ba-4dea-a386-a187748fa171
|
1
|
|
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers, file efde5904-5e91-444b-aa8b-f75d96317720
|
1
|
|
Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations, file f3530860-5cd9-4ce9-b78b-76020124c2c4
|
1
|
|
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients, file f5f82f94-0673-4e49-a444-11b4cc340d97
|
1
|
|
Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders, file fda8545d-e36b-4981-a2ae-ef1a9113bab0
|
1
|
| Totale |
1.000 |