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<!--
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UID=1843246
|
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ConceptID=C5680674
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal dominant hereditary sensory and autonomic neuropathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1843246</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5680674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140474">ORPHA140474</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Autosomal dominant hereditary sensory and autonomic neuropathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Autosomal dominant hereditary sensory and autonomic neuropathy</span><ul><li><span class="TLline"><a href="/medgen/5645" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy type 1">Hereditary sensory and autonomic neuropathy type 1</a></span><ul><li><span class="TLline"><a href="/medgen/1716450" ref="tree=MeSH" title="MedGen record for Neuropathy, hereditary sensory and autonomic, type 1A">Neuropathy, hereditary sensory and autonomic, type 1A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/816212" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy type 7">Hereditary sensory and autonomic neuropathy type 7</a></span></li><li><span class="TLline"><a href="/medgen/330880" ref="tree=MeSH" title="MedGen record for Hereditary sensory and autonomic neuropathy type 1B">Hereditary sensory and autonomic neuropathy type 1B</a></span></li><li><span class="TLline"><a href="/medgen/481515" ref="tree=MeSH" title="MedGen record for Hereditary sensory neuropathy-deafness-dementia syndrome">Hereditary sensory neuropathy-deafness-dementia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8688" ref="tree=MeSH" title="MedGen record for Primary erythromelalgia">Primary erythromelalgia</a></span></li><li><span class="TLline"><a href="/medgen/1377371" ref="tree=MeSH" title="MedGen record for PrP systemic amyloidosis">PrP systemic amyloidosis</a></span></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38923548">Amyloid Neuropathy: From Pathophysiology to Treatment in Light-Chain Amyloidosis and Hereditary Transthyretin Amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chompoopong P,
|
||
Mauermann ML,
|
||
Siddiqi H,
|
||
Peltier A</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2024 Sep;96(3):423-440.
|
||
Epub 2024 Jun 24
|
||
doi: 10.1002/ana.26965.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38923548" target="_blank">38923548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37828588">Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ando Y,
|
||
Waddington-Cruz M,
|
||
Sekijima Y,
|
||
Koike H,
|
||
Ueda M,
|
||
Konishi H,
|
||
Ishii T,
|
||
Coelho T</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Oct 12;18(1):323.
|
||
doi: 10.1186/s13023-023-02910-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37828588" target="_blank">37828588</a><a href="/pmc/articles/PMC10571420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29343286">Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sekijima Y,
|
||
Ueda M,
|
||
Koike H,
|
||
Misawa S,
|
||
Ishii T,
|
||
Ando Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Jan 17;13(1):6.
|
||
doi: 10.1186/s13023-017-0726-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29343286" target="_blank">29343286</a><a href="/pmc/articles/PMC5773042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autosomal%20dominant%20hereditary%20sensory%20and%20autonomic%20neuropathy)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37239332">Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
|
||
Jezela-Stanek A,
|
||
Śmigiel R,
|
||
Walczak A,
|
||
Mierzewska H,
|
||
Kutkowska-Kaźmierczak A,
|
||
Płoski R,
|
||
Emich-Widera E,
|
||
Steinborn B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Apr 25;14(5)
|
||
doi: 10.3390/genes14050972.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37239332" target="_blank">37239332</a><a href="/pmc/articles/PMC10217861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22285450">Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Timmerman V,
|
||
Clowes VE,
|
||
Reid E</span><br />
|
||
<span class="medgenPMjournal">Exp Neurol</span>
|
||
2013 Aug;246:14-25.
|
||
Epub 2012 Jan 18
|
||
doi: 10.1016/j.expneurol.2012.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22285450" target="_blank">22285450</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15534600">Hereditary optic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman NJ,
|
||
Biousse V</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2004 Nov;18(11):1144-60.
|
||
doi: 10.1038/sj.eye.6701591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15534600" target="_blank">15534600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15319794">Hereditary sensory neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auer-Grumbach M</span><br />
|
||
<span class="medgenPMjournal">Drugs Today (Barc)</span>
|
||
2004 May;40(5):385-94.
|
||
doi: 10.1358/dot.2004.40.5.850487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15319794" target="_blank">15319794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7804455">Inherited neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chance PF,
|
||
Reilly M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1994 Oct;7(5):372-80.
|
||
doi: 10.1097/00019052-199410000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7804455" target="_blank">7804455</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hereditary%20sensory%20and%20autonomic%20neuropathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34459874">Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JO,
|
||
Chia R,
|
||
Miller DE,
|
||
Li R,
|
||
Kumaran R,
|
||
Abramzon Y,
|
||
Alahmady N,
|
||
Renton AE,
|
||
Topp SD,
|
||
Gibbs JR,
|
||
Cookson MR,
|
||
Sabir MS,
|
||
Dalgard CL,
|
||
Troakes C,
|
||
Jones AR,
|
||
Shatunov A,
|
||
Iacoangeli A,
|
||
Al Khleifat A,
|
||
Ticozzi N,
|
||
Silani V,
|
||
Gellera C,
|
||
Blair IP,
|
||
Dobson-Stone C,
|
||
Kwok JB,
|
||
Bonkowski ES,
|
||
Palvadeau R,
|
||
Tienari PJ,
|
||
Morrison KE,
|
||
Shaw PJ,
|
||
Al-Chalabi A,
|
||
Brown RH Jr,
|
||
Calvo A,
|
||
Mora G,
|
||
Al-Saif H,
|
||
Gotkine M,
|
||
Leigh F,
|
||
Chang IJ,
|
||
Perlman SJ,
|
||
Glass I,
|
||
Scott AI,
|
||
Shaw CE,
|
||
Basak AN,
|
||
Landers JE,
|
||
Chiò A,
|
||
Crawford TO,
|
||
Smith BN,
|
||
Traynor BJ;
|
||
FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium,
|
||
Smith BN,
|
||
Ticozzi N,
|
||
Fallini C,
|
||
Gkazi AS,
|
||
Topp SD,
|
||
Scotter EL,
|
||
Kenna KP,
|
||
Keagle P,
|
||
Tiloca C,
|
||
Vance C,
|
||
Troakes C,
|
||
Colombrita C,
|
||
King A,
|
||
Pensato V,
|
||
Castellotti B,
|
||
Baas F,
|
||
Ten Asbroek ALMA,
|
||
McKenna-Yasek D,
|
||
McLaughlin RL,
|
||
Polak M,
|
||
Asress S,
|
||
Esteban-Pérez J,
|
||
Stevic Z,
|
||
D'Alfonso S,
|
||
Mazzini L,
|
||
Comi GP,
|
||
Del Bo R,
|
||
Ceroni M,
|
||
Gagliardi S,
|
||
Querin G,
|
||
Bertolin C,
|
||
van Rheenen W,
|
||
Rademakers R,
|
||
van Blitterswijk M,
|
||
Lauria G,
|
||
Duga S,
|
||
Corti S,
|
||
Cereda C,
|
||
Corrado L,
|
||
Sorarù G,
|
||
Williams KL,
|
||
Nicholson GA,
|
||
Blair IP,
|
||
Leblond-Manry C,
|
||
Rouleau GA,
|
||
Hardiman O,
|
||
Morrison KE,
|
||
Veldink JH,
|
||
van den Berg LH,
|
||
Al-Chalabi A,
|
||
Pall H,
|
||
Shaw PJ,
|
||
Turner MR,
|
||
Talbot K,
|
||
Taroni F,
|
||
García-Redondo A,
|
||
Wu Z,
|
||
Glass JD,
|
||
Gellera C,
|
||
Ratti A,
|
||
Brown RH Jr,
|
||
Silani V,
|
||
Shaw CE,
|
||
Landers JE,
|
||
Dalgard CL,
|
||
Adeleye A,
|
||
Soltis AR,
|
||
Alba C,
|
||
Viollet C,
|
||
Bacikova D,
|
||
Hupalo DN,
|
||
Sukumar G,
|
||
Pollard HB,
|
||
Wilkerson MD,
|
||
Martinez EM,
|
||
Abramzon Y,
|
||
Ahmed S,
|
||
Arepalli S,
|
||
Baloh RH,
|
||
Bowser R,
|
||
Brady CB,
|
||
Brice A,
|
||
Broach J,
|
||
Campbell RH,
|
||
Camu W,
|
||
Chia R,
|
||
Cooper-Knock J,
|
||
Ding J,
|
||
Drepper C,
|
||
Drory VE,
|
||
Dunckley TL,
|
||
Eicher JD,
|
||
England BK,
|
||
Faghri F,
|
||
Feldman E,
|
||
Floeter MK,
|
||
Fratta P,
|
||
Geiger JT,
|
||
Gerhard G,
|
||
Gibbs JR,
|
||
Gibson SB,
|
||
Glass JD,
|
||
Hardy J,
|
||
Harms MB,
|
||
Heiman-Patterson TD,
|
||
Hernandez DG,
|
||
Jansson L,
|
||
Kirby J,
|
||
Kowall NW,
|
||
Laaksovirta H,
|
||
Landeck N,
|
||
Landi F,
|
||
Le Ber I,
|
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Lumbroso S,
|
||
MacGowan DJL,
|
||
Maragakis NJ,
|
||
Mora G,
|
||
Mouzat K,
|
||
Murphy NA,
|
||
Myllykangas L,
|
||
Nalls MA,
|
||
Orrell RW,
|
||
Ostrow LW,
|
||
Pamphlett R,
|
||
Pickering-Brown S,
|
||
Pioro EP,
|
||
Pletnikova O,
|
||
Pliner HA,
|
||
Pulst SM,
|
||
Ravits JM,
|
||
Renton AE,
|
||
Rivera A,
|
||
Robberecht W,
|
||
Rogaeva E,
|
||
Rollinson S,
|
||
Rothstein JD,
|
||
Scholz SW,
|
||
Sendtner M,
|
||
Shaw PJ,
|
||
Sidle KC,
|
||
Simmons Z,
|
||
Singleton AB,
|
||
Smith N,
|
||
Stone DJ,
|
||
Tienari PJ,
|
||
Troncoso JC,
|
||
Valori M,
|
||
Van Damme P,
|
||
Van Deerlin VM,
|
||
Van Den Bosch L,
|
||
Zinman L,
|
||
Landers JE,
|
||
Chiò A,
|
||
Traynor BJ,
|
||
Angelocola SM,
|
||
Ausiello FP,
|
||
Barberis M,
|
||
Bartolomei I,
|
||
Battistini S,
|
||
Bersano E,
|
||
Bisogni G,
|
||
Borghero G,
|
||
Brunetti M,
|
||
Cabona C,
|
||
Calvo A,
|
||
Canale F,
|
||
Canosa A,
|
||
Cantisani TA,
|
||
Capasso M,
|
||
Caponnetto C,
|
||
Cardinali P,
|
||
Carrera P,
|
||
Casale F,
|
||
Chiò A,
|
||
Colletti T,
|
||
Conforti FL,
|
||
Conte A,
|
||
Conti E,
|
||
Corbo M,
|
||
Cuccu S,
|
||
Dalla Bella E,
|
||
D'Errico E,
|
||
DeMarco G,
|
||
Dubbioso R,
|
||
Ferrarese C,
|
||
Ferraro PM,
|
||
Filippi M,
|
||
Fini N,
|
||
Floris G,
|
||
Fuda G,
|
||
Gallone S,
|
||
Gianferrari G,
|
||
Giannini F,
|
||
Grassano M,
|
||
Greco L,
|
||
Iazzolino B,
|
||
Introna A,
|
||
La Bella V,
|
||
Lattante S,
|
||
Lauria G,
|
||
Liguori R,
|
||
Logroscino G,
|
||
Logullo FO,
|
||
Lunetta C,
|
||
Mandich P,
|
||
Mandrioli J,
|
||
Manera U,
|
||
Manganelli F,
|
||
Marangi G,
|
||
Marinou K,
|
||
Marrosu MG,
|
||
Martinelli I,
|
||
Messina S,
|
||
Moglia C,
|
||
Mora G,
|
||
Mosca L,
|
||
Murru MR,
|
||
Origone P,
|
||
Passaniti C,
|
||
Petrelli C,
|
||
Petrucci A,
|
||
Pozzi S,
|
||
Pugliatti M,
|
||
Quattrini A,
|
||
Ricci C,
|
||
Riolo G,
|
||
Riva N,
|
||
Russo M,
|
||
Sabatelli M,
|
||
Salamone P,
|
||
Salivetto M,
|
||
Salvi F,
|
||
Santarelli M,
|
||
Sbaiz L,
|
||
Sideri R,
|
||
Simone I,
|
||
Simonini C,
|
||
Spataro R,
|
||
Tanel R,
|
||
Tedeschi G,
|
||
Ticca A,
|
||
Torriello A,
|
||
Tranquilli S,
|
||
Tremolizzo L,
|
||
Trojsi F,
|
||
Vasta R,
|
||
Vacchiano V,
|
||
Vita G,
|
||
Volanti P,
|
||
Zollino M,
|
||
Zucchi E</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Oct 1;78(10):1236-1248.
|
||
doi: 10.1001/jamaneurol.2021.2598.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34459874" target="_blank">34459874</a><a href="/pmc/articles/PMC8406220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30295933">Hereditary transthyretin-related amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Iglseder S,
|
||
Wanschitz J,
|
||
Topakian R,
|
||
Löscher WN,
|
||
Grisold W</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2019 Feb;139(2):92-105.
|
||
Epub 2018 Oct 23
|
||
doi: 10.1111/ane.13035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30295933" target="_blank">30295933</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15319794">Hereditary sensory neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Auer-Grumbach M</span><br />
|
||
<span class="medgenPMjournal">Drugs Today (Barc)</span>
|
||
2004 May;40(5):385-94.
|
||
doi: 10.1358/dot.2004.40.5.850487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15319794" target="_blank">15319794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7804455">Inherited neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chance PF,
|
||
Reilly M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1994 Oct;7(5):372-80.
|
||
doi: 10.1097/00019052-199410000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7804455" target="_blank">7804455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4136553">Autosomal dominant insensitivity to pain with hyperplastic myelinopathy and autosomal dominant indifference to pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Comings DE,
|
||
Amromin GD</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1974 Sep;24(9):838-48.
|
||
doi: 10.1212/wnl.24.9.838.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4136553" target="_blank">4136553</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hereditary%20sensory%20and%20autonomic%20neuropathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (44)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/6932477">Hereditary pressure-sensitive neuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Debruyne J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hereditary%20sensory%20and%20autonomic%20neuropathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38923548">Amyloid Neuropathy: From Pathophysiology to Treatment in Light-Chain Amyloidosis and Hereditary Transthyretin Amyloidosis.</a></div>
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|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2004 Nov;18(11):1144-60.
|
||
doi: 10.1038/sj.eye.6701591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15534600" target="_blank">15534600</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hereditary%20sensory%20and%20autonomic%20neuropathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (25)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/30295933">Hereditary transthyretin-related amyloidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Iglseder S,
|
||
Wanschitz J,
|
||
Topakian R,
|
||
Löscher WN,
|
||
Grisold W</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2019 Feb;139(2):92-105.
|
||
Epub 2018 Oct 23
|
||
doi: 10.1111/ane.13035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30295933" target="_blank">30295933</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20hereditary%20sensory%20and%20autonomic%20neuropathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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