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PubPharm (210)
1
A novel DHTKD1 gene mutation with ALS like presentation : a case report
enthalten in:
Amyotrophic lateral sclerosis & frontotemporal degeneration
| 2024
von
Menon, D.
|
Nashi, S.
|
Mohanty, M.
| +8
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2
Enhanced Levels of Fractalkine and HSP60 in Cerebrospinal Fluid of Sporadic Amyotrophic Lateral Sclerosis Patients
enthalten in:
The International journal of neuroscience
| 2024
von
Savant, R.
|
Pradhan, R.
|
Bhagat, S.
| +7
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3
Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual
enthalten in:
Stem cell research
| 2024
von
Dash, S.
|
Arunachal, G.
|
Nimonkar, M.
| +6
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4
Monomelic Amyotrophy/Hirayama Disease : Surgical Outcome in a Large Cohort of Indian Patients
enthalten in:
World neurosurgery
| 2024
von
Vengalil, S.
|
Pruthi, N.
|
Bhat, D.
| +23
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5
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B) : more than cerebellar atrophy
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Chen, S.
|
Ashton, C.
|
Sakalla, R.
| +24
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6
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
enthalten in:
bioRxiv.org
| 2024
von
Chen, S.
|
Ashton, C.
|
Sakalla, R.
| +24
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7
Qualitative and Quantitative Electrocardiogram Parameters in a Large Cohort of Children with Duchenne Muscle Dystrophy in Comparison with Age-Matched Healthy Subjects : A Study from South India
enthalten in:
Annals of Indian Academy of Neurology
| 2024
von
Girija, M.
|
Menon, D.
|
Polavarapu, K.
| +16
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8
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant
enthalten in:
Neurology. Genetics
| 2024
von
Baskar, D.
|
Polavarapu, K.
|
Preethish-Kumar, V.
| +11
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9
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
enthalten in:
Brain : a journal of neurology
| 2024
von
Polavarapu, K.
|
Sunitha, B.
|
Töpf, A.
| +23
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10
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Nishadham, V.
|
Santhoshkumar, R.
|
Nashi, S.
| +9
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Annals of Indian Academy of Neurology
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Neurology India
11
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11
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Journal of neuromuscular diseases
9
Neurogenetics
9
Neurology, India
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The American journal of tropical medicine and h...
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Journal of child neurology
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Journal of human genetics
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BMC medical genetics
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Journal of neuroinflammation
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SN comprehensive clinical medicine
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Thema
128
Journal Article
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Case Reports
26
Research Support, Non-U.S. Gov't
19
Duchenne muscular dystrophy
13
India
7
Mitochondria
7
Muscular dystrophy
6
Hirayama disease
6
Mitochondrial Proteins
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Proteomics
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Amyotrophic lateral sclerosis
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Cerebrospinal fluid
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MRI
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Mutation
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ADEM
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Acute demyelinating encephalomyelitis
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Albendazole
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Familial
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Founder mutation
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