| Nome |
# |
|
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study, file e0feeaa7-ee5e-44d2-e053-6605fe0a8db0
|
133
|
|
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study, file e0feeaa7-ee64-44d2-e053-6605fe0a8db0
|
133
|
|
Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants, file e0feeaa7-ef11-44d2-e053-6605fe0a8db0
|
131
|
|
Congenital myopathies: Clinical phenotypes and new diagnostic tools, file e0feeaa6-d247-44d2-e053-6605fe0a8db0
|
123
|
|
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study, file e0feeaa8-a0b3-44d2-e053-6605fe0a8db0
|
84
|
|
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects, file e0feeaa6-2617-44d2-e053-6605fe0a8db0
|
72
|
|
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions, file e0feeaa5-de2b-44d2-e053-6605fe0a8db0
|
69
|
|
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients, file e0feeaa9-9453-44d2-e053-6605fe0a8db0
|
51
|
|
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?, file e0feeaa6-6d62-44d2-e053-6605fe0a8db0
|
25
|
|
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy, file e0feeaab-9809-44d2-e053-6605fe0a8db0
|
23
|
|
Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed., file e0feeaa6-738f-44d2-e053-6605fe0a8db0
|
17
|
|
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports, file e0feeaa9-9456-44d2-e053-6605fe0a8db0
|
16
|
|
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration, file e0feeaa5-62ef-44d2-e053-6605fe0a8db0
|
9
|
|
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28, file e0feeaa5-afb9-44d2-e053-6605fe0a8db0
|
7
|
|
Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity., file e0feeaa9-7bbe-44d2-e053-6605fe0a8db0
|
6
|
|
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy, file e0feeaa5-61ca-44d2-e053-6605fe0a8db0
|
4
|
|
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?, file e0feeaa5-dc49-44d2-e053-6605fe0a8db0
|
4
|
|
A case report of FAVA syndrome in a young woman carrying a mutation in the PIK3CA gene, file c1ecfb0a-5ed4-423b-85b6-190e9ede2505
|
3
|
|
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum, file e0feeaa6-4add-44d2-e053-6605fe0a8db0
|
3
|
|
null, file e0feeaa4-bdc8-44d2-e053-6605fe0a8db0
|
2
|
|
Evaluation of brain apoptosis in a CADASIL postmortem case, file e0feeaa4-c1ed-44d2-e053-6605fe0a8db0
|
2
|
|
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation, file e0feeaa4-c1ee-44d2-e053-6605fe0a8db0
|
2
|
|
Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study, file e0feeaa4-c47e-44d2-e053-6605fe0a8db0
|
2
|
|
null, file e0feeaa4-ece2-44d2-e053-6605fe0a8db0
|
2
|
|
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome., file e0feeaa4-fdf2-44d2-e053-6605fe0a8db0
|
2
|
|
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder., file e0feeaa5-03ec-44d2-e053-6605fe0a8db0
|
2
|
|
Treatment of SPG5 with cholesterol-lowering drugs, file e0feeaa6-715e-44d2-e053-6605fe0a8db0
|
2
|
|
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report, file e0feeaa7-e8f2-44d2-e053-6605fe0a8db0
|
2
|
|
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene, file e0feeaa7-ee6c-44d2-e053-6605fe0a8db0
|
2
|
|
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions, file e0feeaa9-5812-44d2-e053-6605fe0a8db0
|
2
|
|
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy, file e0feeaa9-ca04-44d2-e053-6605fe0a8db0
|
2
|
|
Screening of ARHSP-TCC patients expand the spectrum of SPG11 mutations and includes a large scale gene deletion, file e0feeaa4-c87e-44d2-e053-6605fe0a8db0
|
1
|
|
Clinical and molecular findings in patients with giant axonal neuropathy (GAN)., file e0feeaa4-db78-44d2-e053-6605fe0a8db0
|
1
|
|
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease, file e0feeaa4-df5d-44d2-e053-6605fe0a8db0
|
1
|
|
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL., file e0feeaa4-e0ac-44d2-e053-6605fe0a8db0
|
1
|
|
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type, file e0feeaa4-e869-44d2-e053-6605fe0a8db0
|
1
|
|
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course, file e0feeaa4-e8ef-44d2-e053-6605fe0a8db0
|
1
|
|
Acute shoulder–girdle neuralgic amyotrophy (parsonage-turner syndrome) with saphenous nerve involvement., file e0feeaa4-e9de-44d2-e053-6605fe0a8db0
|
1
|
|
Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects, file e0feeaa4-f239-44d2-e053-6605fe0a8db0
|
1
|
|
Localization of the laminin alpha 2 chain in normal human skeletal muscle and peripheral nerve: an ultrastructural immunolabeling study, file e0feeaa4-f23d-44d2-e053-6605fe0a8db0
|
1
|
|
Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family, file e0feeaa4-f3ce-44d2-e053-6605fe0a8db0
|
1
|
|
Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia, file e0feeaa4-f5c7-44d2-e053-6605fe0a8db0
|
1
|
|
Long-term follow-up of lupus-related subacute myelopathy treated by plasmapheresis and pulse cyclophosphamide, file e0feeaa5-640c-44d2-e053-6605fe0a8db0
|
1
|
|
null, file e0feeaa5-73c2-44d2-e053-6605fe0a8db0
|
1
|
|
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case, file e0feeaa5-c538-44d2-e053-6605fe0a8db0
|
1
|
|
null, file e0feeaa5-e176-44d2-e053-6605fe0a8db0
|
1
|
|
Cortical periventricular heterotopia with ectodermal dysplasia, file e0feeaa5-e67d-44d2-e053-6605fe0a8db0
|
1
|
|
Imaging of the thymus in myotonic dystrophy type 1, file e0feeaa6-d245-44d2-e053-6605fe0a8db0
|
1
|
|
Discordant manifestations in Italian brothers with GNE myopathy, file e0feeaa7-ef0c-44d2-e053-6605fe0a8db0
|
1
|
|
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients, file e0feeaaa-6321-44d2-e053-6605fe0a8db0
|
1
|
| Totale |
956 |