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Quoted phrase not found in phrase index: "Giant axonal neuropathy 2"
Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
OBJECTIVES: Generally, neuropathies of peripheral nerves are a frequent condition (prevalence 2-3%) and most frequently due to alcoholism, diabetes, renal insufficiency, malignancy, toxins, or drugs. ...Schindler disease), peroxisomal disorders, porphyrias, and other types …
OBJECTIVES: Generally, neuropathies of peripheral nerves are a frequent condition (prevalence 2-3%) and most frequently due to alcoho …
Giant axonal neuropathy: A differential diagnosis of consideration.
Edem P, Karakaya M, Wirth B, Okur TD, Yiş U. Edem P, et al. Turk J Pediatr. 2019;61(2):275-278. doi: 10.24953/turkjped.2019.02.019. Turk J Pediatr. 2019. PMID: 31951341 Free article.
Edem P, Karakaya M, Wirth B, Okur TD, Yis U. Giant axonal neuropathy: A differential diagnosis of consideration. Turk J Pediatr 2019; 61: 275-278. Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affecting both the centr …
Edem P, Karakaya M, Wirth B, Okur TD, Yis U. Giant axonal neuropathy: A differential diagnosis of consideration. Turk J …
Aromatic as well as aliphatic hydrocarbon solvent axonopathy.
Spencer PS, Kim MS, Sabri MI. Spencer PS, et al. Int J Hyg Environ Health. 2002 Mar;205(1-2):131-6. doi: 10.1078/1438-4639-00138. Int J Hyg Environ Health. 2002. PMID: 12018006 Review.
Certain aromatic solvents (1,2-diethylbenzene, 1,2,4-triethylbenzene) cause electrophysiological changes consistent with sensorimotor neuropathy in rodents, but the underlying mechanisms and pathogenesis are unclear. ...Rats treated with 1,2-diacetylbe …
Certain aromatic solvents (1,2-diethylbenzene, 1,2,4-triethylbenzene) cause electrophysiological changes consistent with senso …
Giant axonal neuropathy: a clinicoradiopathologic diagnosis.
Israni A, Chakrabarty B, Gulati S, Mohamed A, Kumar A, Sable MN, Suri V. Israni A, et al. Neurology. 2014 Mar 4;82(9):816-7. doi: 10.1212/WNL.0000000000000177. Neurology. 2014. PMID: 24590247 Free PMC article.
Salient investigative findings were leukodystrophy on MRI brain (figure 1B), sensorimotor polyneuropathy, and giant axons with aberrant neurofilament immunostaining on sural nerve biopsy (figure 2, A and B). Giant axonal neuropathy is a rare (wo …
Salient investigative findings were leukodystrophy on MRI brain (figure 1B), sensorimotor polyneuropathy, and giant axons with aberra …
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.
Ashrafi MR, Dehnavi AZ, Tavasoli AR, Heidari M, Ghahvechi Akbari M, Ronagh AR, Ghafouri M, Mahdieh N, Mohammadi P, Rezaei Z. Ashrafi MR, et al. Mol Genet Genomic Med. 2023 Jun;11(6):e2159. doi: 10.1002/mgg3.2159. Epub 2023 Mar 3. Mol Genet Genomic Med. 2023. PMID: 36866531 Free PMC article. Review.
BACKGROUND: Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease-causing variants in the gigaxonin gene (GAN) cause autosomal recessive giant axonal …
BACKGROUND: Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the pe …
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy.
Wang L, Zhao D, Wang Z, Zhang W, Lv H, Liu X, Meng L, Yuan Y. Wang L, et al. Muscle Nerve. 2014 Aug;50(2):200-5. doi: 10.1002/mus.24130. Epub 2014 May 17. Muscle Nerve. 2014. PMID: 24273072
INTRODUCTION: Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the GAN gene. ...METHODS: General clinical assessment, sural nerve biopsy, and genetic analysis were performed. RESULTS: Sural biopsy r …
INTRODUCTION: Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder caused by mutation …
Two novel mutations in the GAN gene causing giant axonal neuropathy.
Normendez-Martínez MI, Monterde-Cruz L, Martínez R, Marquez-Harper M, Esquitin-Garduño N, Valdes-Flores M, Casas-Avila L, de Leon-Suarez VP, Romero-Díaz VJ, Hidalgo-Bravo A. Normendez-Martínez MI, et al. World J Pediatr. 2018 Jun;14(3):298-304. doi: 10.1007/s12519-018-0140-z. Epub 2018 Jun 6. World J Pediatr. 2018. PMID: 29876741 Review.
BACKGROUND: Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. ...Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly av …
BACKGROUND: Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mod …
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Chakravorty S, Logan R, Elson MJ, Luke RR, Verma S. Chakravorty S, et al. Sci Rep. 2020 Sep 30;10(1):16184. doi: 10.1038/s41598-020-73219-5. Sci Rep. 2020. PMID: 32999401 Free PMC article.
Neurological examination and electrodiagnostic testing showed gait-difficulties, absent tendon reflexes, decreased joint-position, positive Romberg's test and large fiber sensory polyneuropathy on sensory nerve conduction studies in all patients associated with lower-extremity sp …
Neurological examination and electrodiagnostic testing showed gait-difficulties, absent tendon reflexes, decreased joint-position, positive …
Giant axonal neuropathy diagnosed on skin biopsy.
Mohammad SS, Lau C, Burke C, McCallum N, Robertson T. Mohammad SS, et al. J Clin Neurosci. 2014 May;21(5):865-7. doi: 10.1016/j.jocn.2013.06.017. Epub 2013 Aug 26. J Clin Neurosci. 2014. PMID: 24211141
Evaluation of hereditary axonal neuropathy in childhood is complex. Often, the child has to be subjected to general anaesthesia for a nerve biopsy to guide further genetic testing, which may or may not be readily available. We describe a toddler with clinical featur …
Evaluation of hereditary axonal neuropathy in childhood is complex. Often, the child has to be subjected to general anaesthesi …
28 results