617 results on '"Mochel, Fanny"'
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2. Motor neuron pathology in CANVAS due to RFC1 expansions
3. Metabolic Treatments of Cerebellar Ataxia
4. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
5. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
6. Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis
7. Emergency Treatments Emergency Treatments
8. Diagnostic Procedures Diagnostic Procedures
9. Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations
10. Disorders of Complex Lipids
11. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
12. Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy
13. Cardiac Outcomes in Adults With Mitochondrial Diseases
14. Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease
15. A neuro-metabolic account of why daylong cognitive work alters the control of economic decisions
16. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
17. Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study.
18. Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
19. International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach
20. Diagnostic Procedures
21. Emergency Treatments
22. CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
23. Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
24. Tremor-like subcortical myoclonus in STXBP1 encephalopathy
25. Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)
26. Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies
27. Association of plasma YKL-40 with brain amyloid-β levels, memory performance, and sex in subjective memory complainers
28. Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
29. Multiparametric characterization of white matter alterations in early stage Huntington disease
30. Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study
31. Biomarker-guided clustering of Alzheimer's disease clinical syndromes
32. Diagnosis, prognosis, and treatment of leukodystrophies
33. Differential default mode network trajectories in asymptomatic individuals at risk for Alzheimer's disease
34. Subjective cognitive decline and rates of incident Alzheimer's disease and non–Alzheimer's disease dementia
35. Latent class analysis identifies functional decline with Amsterdam IADL in preclinical Alzheimer's disease
36. Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants
37. Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
38. Making a ‘JUMP’ from paediatric to adult healthcare: A transitional program for young adults with chronic neurological disease
39. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
40. Novel brain MRI clues to diagnose adult polyglucosan body disease - a commentary
41. Neurological Disease
42. Sex differences in functional and molecular neuroimaging biomarkers of Alzheimer's disease in cognitively normal older adults with subjective memory complaints
43. Cognitive and neuroimaging features and brain β-amyloidosis in individuals at risk of Alzheimer's disease (INSIGHT-preAD): a longitudinal observational study
44. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse
45. Lipids and synaptic functions
46. Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation
47. Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
48. Magnetic Resonance Spectroscopy in Huntington’s Disease
49. Diagnostic Procedures
50. Emergency Treatments
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