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1992 2
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Page 1
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.
Elhennawy K, Reda S, Finke C, Graul-Neumann L, Jost-Brinkmann PG, Bartzela T. Elhennawy K, et al. J Med Case Rep. 2017 Aug 15;11(1):233. doi: 10.1186/s13256-017-1387-z. J Med Case Rep. 2017. PMID: 28807049 Free PMC article. Review.
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. ...We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and …
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited …
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
Yang H, Brown RH Jr, Wang D, Strauss KA, Gao G. Yang H, et al. Trends Mol Med. 2021 Jun;27(6):520-523. doi: 10.1016/j.molmed.2021.02.004. Epub 2021 Mar 10. Trends Mol Med. 2021. PMID: 33714697 Free PMC article. Review.
De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and autonomic neuropathy type 1A (HSAN1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HS …
De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and a …
BPAG1 in muscles: Structure and function in skeletal, cardiac and smooth muscle.
Horie M, Yoshioka N, Takebayashi H. Horie M, et al. Semin Cell Dev Biol. 2017 Sep;69:26-33. doi: 10.1016/j.semcdb.2017.07.016. Epub 2017 Jul 20. Semin Cell Dev Biol. 2017. PMID: 28736206 Review.
The aim of this review is to provide an overview of and highlight some recent findings on the expression and function of BPAG1 in muscles, which can assist future studies designed to delineate the role and regulation of BPAG1 in the dt mouse phenotype and in human hereditary …
The aim of this review is to provide an overview of and highlight some recent findings on the expression and function of BPAG1 in muscles, w …
Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease.
Finsterer J, Wanschitz J, Quasthoff S, Iglseder S, Löscher W, Grisold W. Finsterer J, et al. Acta Neurol Scand. 2017 Dec;136(6):558-569. doi: 10.1111/ane.12758. Epub 2017 Mar 12. Acta Neurol Scand. 2017. PMID: 28295152 Review.
This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. METHODS: Literature review. RESULTS: Neuropathy in FD con …
This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, di …
Autonomic neuropathy and immunological abnormalities in Chagas' disease.
Fernandez A, Hontebeyrie M, Said G. Fernandez A, et al. Clin Auton Res. 1992 Dec;2(6):409-12. doi: 10.1007/BF01831400. Clin Auton Res. 1992. PMID: 1290925 Review.
The next, which is lifelong (chronic phase), is characterized by inflammatory lesions in cardiac and skeletal muscle, gastrointestinal, the autonomic nervous system. Parasites are difficult to detect in blood and affected tissues. Lesions within the autonomic nervou …
The next, which is lifelong (chronic phase), is characterized by inflammatory lesions in cardiac and skeletal muscle, gastrointestinal, the …
Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.
Sekijima Y, Ueda M, Koike H, Misawa S, Ishii T, Ando Y. Sekijima Y, et al. Orphanet J Rare Dis. 2018 Jan 17;13(1):6. doi: 10.1186/s13023-017-0726-x. Orphanet J Rare Dis. 2018. PMID: 29343286 Free PMC article. Review.
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve da …
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosoma …
RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer.
Islam F, Gopalan V, Lam AK. Islam F, et al. J Cell Physiol. 2018 Jun;233(6):4479-4489. doi: 10.1002/jcp.26384. Epub 2018 Jan 15. J Cell Physiol. 2018. PMID: 29226326 Review.
FAM134B inhibition contributes to impair proteostasis in the ER due to the accumulation of misfolded or aggregated proteins, which in turn leads to compromised neuronal survival and progressive neuronal degenerative diseases. Mutations in FAM134B associated with hereditary …
FAM134B inhibition contributes to impair proteostasis in the ER due to the accumulation of misfolded or aggregated proteins, which in turn l …
Genetic mutations that prevent pain: implications for future pain medication.
Oertel B, Lötsch J. Oertel B, et al. Pharmacogenomics. 2008 Feb;9(2):179-94. doi: 10.2217/14622416.9.2.179. Pharmacogenomics. 2008. PMID: 18370847 Review.
Several genetic variants prevent or at least decrease pain in their carriers as compared with carriers of the respective wild-type or common alleles by impeding the generation, transmission and processing of nociceptive information or by increasing the local availability o …
Several genetic variants prevent or at least decrease pain in their carriers as compared with carriers of the respective wild-type or …
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
Indo Y. Indo Y. Hum Mutat. 2001 Dec;18(6):462-71. doi: 10.1002/humu.1224. Hum Mutat. 2001. PMID: 11748840 Review.
Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosi …
Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neurop …
[Connection between microalbuminuria and subclinical cardiovascular autonomic neuropathy in diabetic children].
Barkai L, Madácsy L, Vámosi I. Barkai L, et al. Orv Hetil. 1992 Jan 5;133(1):29-33. Orv Hetil. 1992. PMID: 1734337 Review. Hungarian.
Comparing to the control group, in both of two diabetic groups a similar increase in resting heart rate (74.5 +/- 2.5/min vs. 87.8 +/- 3.5/min, p less than 0.01, and 83.6 +/- 3.2/min, p less than 0.05) and a decrease in hyperventilatory arrhythmia (32.3 +/- 1.2/min vs. 20. …
Comparing to the control group, in both of two diabetic groups a similar increase in resting heart rate (74.5 +/- 2.5/min vs. 87.8 +/- 3.5/m …