Results 31 to 40 of about 37,325 (255)

Autonomic Nervous System Phenotyping Across Chronic Demyelinating Peripheral Neuropathies: A Comparative Study. [PDF]

J Peripher Nerv Syst
ABSTRACT Background and Aims This study aimed to systematically phenotype autonomic nervous system (ANS) involvement in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), monoclonal gammopathy of undetermined significance‐associated neuropathy (MGUS‐PNP), Charcot–Marie–Tooth disease Type 1A (CMT1A), and hereditary neuropathy with ...
Bjelica B, Todorovic T, Bozovic I, Palibrk A, Jankovic V, Basta I, Peric S.   +6 more
europepmc   +2 more sources

Charcot and Cholesterin [PDF]

European Neurology, 2019
We offer here an observation written in 1866 by Jean-Martin Charcot, accompanied by drawings made during the autopsy of a patient who died of <i>“cerebral softening.”</i> Focusing mainly on French medical progress at the time, our survey of the state of knowledge of cerebrovascular pathology indicates that Charcot completely explained the ...
openaire   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Salient features and outcomes of Charcot foot – An often-overlooked diabetic complication: A 17-year-experience at a diabetic center in Bangkok

Journal of Clinical & Translational Endocrinology, 2018
Background: Charcot foot is a rare but a serious diabetic condition. Recognition of this often overlooked condition to provide timely and proper management is important for a better prognosis. Limited data on Charcot foot was available in Asians.
Yotsapon Thewjitcharoen, Jeeraphan Sripatpong, Wyn Parksook, Sirinate Krittiyawong, Sriurai Porramatikul, Taweesak Srikummoon, Somkiet Mahaudomporn, Soontaree Nakasatien, Thep Himathongkam   +8 more
doaj   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Charcot’s Arthropathy of the Hip [PDF]

The Journal of Rheumatology, 2013
Charcot’s arthropathy is a degenerative condition of the joints secondary to a neurologic lesion, resulting in deformity and increased bone reabsorption1. Misdiagnosis as osteomyelitis or neoplasm is frequent. A 67-year-old man with a 19-year history of posttraumatic sensorimotor paraplegia, depression, and alcoholism was evaluated for weight loss of ...
Cavalli G., Praderio L.
openaire   +3 more sources

Reclaiming Anatomy as Method: From Morphological Reasoning to Clinical Relevance

Clinical Anatomy, EarlyView.
ABSTRACT In recent decades, molecular biology and omics technologies have profoundly reshaped biomedical research, with genomics, proteomics, and other high‐throughput approaches dominating scientific agendas and funding priorities. Within this molecular paradigm, however, the anatomical sciences face an epistemic and institutional tension: morphology,
Katia Cortese, Marco Frascio
wiley   +1 more source

Protocol for Reconstituting Adaptor‐Mediated Activation of Full‐Length Kinesin‐1

Cytoskeleton, EarlyView.
ABSTRACT Kinesin‐1 is a member of the kinesin superfamily that plays an essential role in intracellular cargo transport. In the absence of cargo, Kinesin‐1 exhibits low motor activity due to autoinhibition. Multiple studies have demonstrated that adaptor proteins, which link cargos to Kinesin‐1, can activate Kinesin‐1 by releasing the autoinhibition ...
Haruka Masumoto, Kyoko Chiba
wiley   +1 more source

Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich

Arquivos de Neuro-Psiquiatria, 1972
Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída ...
Charles Peter Tilbery, Décio Cassiani Altimari, Luiz G. Gagliardi-Ferreira, José L. Alonso Nieto   +3 more
doaj   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source