| Nome |
# |
|
Use of dynamic movement orthoses to improve gait stability and trunk control in ataxic patients, file e3835318-d133-15e8-e053-a505fe0a3de9
|
251
|
|
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions, file e3835315-712b-15e8-e053-a505fe0a3de9
|
195
|
|
Attrv in lazio-italy: A high-prevalence region in a non-endemic country, file e383532c-0270-15e8-e053-a505fe0a3de9
|
126
|
|
Dataset on gait patterns in degenerative neurological diseases, file e383531d-cd70-15e8-e053-a505fe0a3de9
|
115
|
|
Gait patterns in patients with hereditary spastic paraparesis, file e3835315-8bfd-15e8-e053-a505fe0a3de9
|
113
|
|
Stability of erythropoietin repackaging in polypropylene syringes for clinical use, file e3835316-c357-15e8-e053-a505fe0a3de9
|
93
|
|
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network, file db42075a-f0ed-4d90-8a44-9ad44ef4934c
|
72
|
|
Maternally inherited cardiomyopathy: clinical and molecula characterization of a large kindred harboring the A4300G point mutation in mtDNA, file e3835328-5bb0-15e8-e053-a505fe0a3de9
|
54
|
|
Cerebral mitochondrial microangiopathy leads to leukoencephalopathy in mitochondrial neurogastrointestinal encephalopathy, file e383531a-d580-15e8-e053-a505fe0a3de9
|
38
|
|
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations, file e383532d-f3cd-15e8-e053-a505fe0a3de9
|
27
|
|
NGS in hereditay ataxia: when rare becomes frequent, file e383532e-4c37-15e8-e053-a505fe0a3de9
|
21
|
|
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis, file e3835311-ee51-15e8-e053-a505fe0a3de9
|
19
|
|
EARLY-ONSET PROGRESSIVE ATAXIA ASSOCIATED WITH THE FIRST CACNA1A MUTATION IDENTIFIED WITHIN THE I-II LOOP., file e3835311-8f68-15e8-e053-a505fe0a3de9
|
17
|
|
Early-onset optic neuropathy as initial clinical presentation in SPG7, file e383531a-2b14-15e8-e053-a505fe0a3de9
|
15
|
|
Next generation molecular diagnosis of hereditary spastic paraplegias: an italian cross-sectional study, file 14b6d477-2cdc-4a79-83a2-36fcbf9f17c1
|
14
|
|
Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: An epidemiological study, file e3835311-7e5b-15e8-e053-a505fe0a3de9
|
11
|
|
Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2, file e3835311-ead2-15e8-e053-a505fe0a3de9
|
11
|
|
Shortened cortical silent period in facial muscles of patients with migraine., file e3835312-270c-15e8-e053-a505fe0a3de9
|
11
|
|
Cerebellum and neuropsychiatric disorders: Insights from ARSACS, file e3835314-579f-15e8-e053-a505fe0a3de9
|
11
|
|
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias. A frequent cause of predominant cognitive impairment, file 2b2e4e0e-3c04-4747-99c1-8b19f4b20746
|
9
|
|
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21, file 81c26002-26c2-43f6-b419-18c8713cec57
|
9
|
|
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family., file e3835311-f5fa-15e8-e053-a505fe0a3de9
|
9
|
|
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy, file e3835311-8493-15e8-e053-a505fe0a3de9
|
7
|
|
Electro-oculographic findings in an unusual case of paramyotonia congenita, file e3835311-b441-15e8-e053-a505fe0a3de9
|
7
|
|
Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1, file e383531a-45b0-15e8-e053-a505fe0a3de9
|
7
|
|
Clinical and audiological follow up of a family with the 8363G > A mutation in the mitochondrial DNA, file e3835311-c3c1-15e8-e053-a505fe0a3de9
|
6
|
|
De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling, file e3835321-09db-15e8-e053-a505fe0a3de9
|
6
|
|
Identification of gait unbalance and fallers among subjects with cerebellar ataxia by a set of trunk acceleration-derived indices of gait, file e383532d-f306-15e8-e053-a505fe0a3de9
|
6
|
|
The Wolframin His611Arg polimorphism infuences medication overuse headache, file e3835311-7e79-15e8-e053-a505fe0a3de9
|
5
|
|
Multiple mtDNA deletions: Clinical and molecular correlations, file e3835311-b366-15e8-e053-a505fe0a3de9
|
5
|
|
Unilateral facial pain associated with recurrence of malignant thymoma: a case report, file e3835311-6351-15e8-e053-a505fe0a3de9
|
4
|
|
Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism, file e3835311-72fb-15e8-e053-a505fe0a3de9
|
4
|
|
Paraneoplastic neuromuscular disease in lung large cell neuroendocrine carcinoma, file e3835311-8f35-15e8-e053-a505fe0a3de9
|
4
|
|
Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop - Reply, file e3835311-ec5a-15e8-e053-a505fe0a3de9
|
4
|
|
Spinocerebellar ataxia type 3 in Italy. time to change mind, file e3835315-9c4a-15e8-e053-a505fe0a3de9
|
4
|
|
Increased lower limb muscle coactivation reduces gait performance and increases metabolic cost in patients with hereditary spastic paraparesis, file e383531d-bf69-15e8-e053-a505fe0a3de9
|
4
|
|
Contrast Echocardiography and Migraine in Divers with Patent Foramen Ovale, file e3835311-9c9c-15e8-e053-a505fe0a3de9
|
3
|
|
Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease, file e3835311-d42f-15e8-e053-a505fe0a3de9
|
2
|
|
Early-onset optic neuropathy as initial clinical presentation in SPG7, file e3835312-3328-15e8-e053-a505fe0a3de9
|
2
|
|
Turning strategies in patients with cerebellar ataxia, file e3835312-4124-15e8-e053-a505fe0a3de9
|
2
|
|
Riluzole in patients with hereditary cerebellar ataxia. a randomised, double-blind, placebo-controlled trial, file e3835312-dfae-15e8-e053-a505fe0a3de9
|
2
|
|
Neuromuscular adjustments of gait associated with unstable conditions, file e3835313-dcef-15e8-e053-a505fe0a3de9
|
2
|
|
Acute optic neuropathy associated with a novel MFN2 mutation, file e3835314-5e34-15e8-e053-a505fe0a3de9
|
2
|
|
null, file e3835315-a76b-15e8-e053-a505fe0a3de9
|
2
|
|
'When atlastin meets spastin', file e383531a-acbd-15e8-e053-a505fe0a3de9
|
2
|
|
An age standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy, file e383531d-9c39-15e8-e053-a505fe0a3de9
|
2
|
|
Harmony as a convergence attractor that minimizes the energy expenditure and variability in physiological gait and the loss of harmony in cerebellar ataxia, file e383531d-b21b-15e8-e053-a505fe0a3de9
|
2
|
|
Nerve ultrasound in Friedreich's Ataxia: enlarged nerves as a biomarker of disease severity, file 100fff32-e565-4c14-b958-6a2635c60473
|
1
|
|
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias, file 65a00b51-179c-436c-b38f-3331be2b3384
|
1
|
|
Gait Pattern in Inherited Cerebellar Ataxias, file e3835311-a762-15e8-e053-a505fe0a3de9
|
1
|
|
Gabapentin can improve dystonia in confirmed Wilson disease., file e3835311-d3ac-15e8-e053-a505fe0a3de9
|
1
|
|
Large deletion mutation of SPAST in a multi-generation family from Sardinia, file e3835311-d430-15e8-e053-a505fe0a3de9
|
1
|
|
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay, file e3835312-0f7c-15e8-e053-a505fe0a3de9
|
1
|
|
A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome, file e3835312-0ff3-15e8-e053-a505fe0a3de9
|
1
|
|
Upper Body Kinematics in Patients with Cerebellar Ataxia, file e3835312-3329-15e8-e053-a505fe0a3de9
|
1
|
|
Sudden Stopping in Patients with Cerebellar Ataxia, file e3835312-384a-15e8-e053-a505fe0a3de9
|
1
|
|
De novo FTL mutation: A clinical, neuroimaging, and molecular study, file e3835312-4535-15e8-e053-a505fe0a3de9
|
1
|
|
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model, file e3835313-9d86-15e8-e053-a505fe0a3de9
|
1
|
|
Reply to Comment "Why Do Patients with Cerebellar Ataxia Not Use Environmental Cues for Reducing Unpredictability of Sudden Gait Stopping?" on "Sudden Stopping in Patients with Cerebellar Ataxia", file e3835313-b554-15e8-e053-a505fe0a3de9
|
1
|
|
Consensus paper. Revisiting the symptoms and signs of cerebellar syndrome, file e3835313-f5b7-15e8-e053-a505fe0a3de9
|
1
|
|
GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients, file e3835314-53e6-15e8-e053-a505fe0a3de9
|
1
|
|
null, file e3835314-5e33-15e8-e053-a505fe0a3de9
|
1
|
|
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy, file e3835315-679e-15e8-e053-a505fe0a3de9
|
1
|
|
Local stability of the trunk in patients with degenerative cerebellar ataxia during walking, file e3835315-e440-15e8-e053-a505fe0a3de9
|
1
|
|
Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family, file e3835316-1e8b-15e8-e053-a505fe0a3de9
|
1
|
|
Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia, file e3835316-bf50-15e8-e053-a505fe0a3de9
|
1
|
|
A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias. A pilot open-labeled study, file e3835316-cba6-15e8-e053-a505fe0a3de9
|
1
|
|
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy, file e3835316-d0e9-15e8-e053-a505fe0a3de9
|
1
|
|
Trunk-lower limb coordination pattern during gait in patients with ataxia, file e3835318-8412-15e8-e053-a505fe0a3de9
|
1
|
|
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival, file e3835325-4ae1-15e8-e053-a505fe0a3de9
|
1
|
|
Neurophysiology of gait, file e3835328-f7ba-15e8-e053-a505fe0a3de9
|
1
|
|
Locomotor coordination in patients with hereditary spastic paraplegia, file e3835329-3f19-15e8-e053-a505fe0a3de9
|
1
|
|
The working life of people with degenerative cerebellar ataxia, file e3835329-437d-15e8-e053-a505fe0a3de9
|
1
|
|
Roussy-Lévy Syndrome: a case of genotype-fenotype correlation, file e383532e-7a92-15e8-e053-a505fe0a3de9
|
1
|
|
Monoallelic KIF1A‑related disorders: a multicenter cross sectional
study and systematic literature review, file e383532e-b8a9-15e8-e053-a505fe0a3de9
|
1
|
|
A clinical and epidemiological prevalence study on Friedreich’s Ataxia in Latium, Italy, file f82c7069-78af-4609-b922-b5663d1c8435
|
1
|
| Totale |
1.366 |