Results 201 to 210 of about 10,587 (266)

A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies. [PDF]

Glob Med Genet
Pomarino D, Rostásy KM, Fregien B, Schönfeldt JO, Nazarkin A.   +4 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Hereditary Sensory and Autonomic Neuropathy

Neurology India, 2022
Objectives: Hereditary sensory and autonomic neuropathy (HSAN) is a group of rare disorders affecting the sensory and autonomic neurons. Herein, we describe the clinical and genetic profile of six children with HSAN. Methods: Hospital records of six children diagnosed with HSAN over
Renu, Suthar, Indar K, Sharawat, Katja, Eggermann, Hansashree, Padmanabha, Arushi G, Saini, Bhavneet, Bharti, Ingo, Kurth, Pratibha, Singhi, Naveen, Sankhyan   +8 more
openaire   +3 more sources

Hereditary Sensory and Autonomic Neuropathy

2018
openaire   +2 more sources

Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI)

Experimental Dermatology, 2022
DST encodes bullous pemphigoid antigen‐1 (BPAG1), a protein with eight tissue‐specific isoforms expressed in the skin, muscle, brain and nerves. Accordingly, mutations in this gene are associated with epidermolysis bullosa simplex (EBS) and hereditary ...
R. Khalesi, N. Harvey, M. Garshasbi, E. Kalamati, L. Youssefian, H. Vahidnezhad, J. Uitto   +6 more
semanticscholar   +1 more source

Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies

The Neurologist, 2004
Since the description of Charcot-Marie-Tooth disease over a century ago. it has now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic ...
Tulio, Bertorini, Pushpa, Narayanaswami, Hani, Rashed   +2 more
openaire   +2 more sources

Recent advances in hereditary sensory and autonomic neuropathies

Current Opinion in Neurology, 2006
This review summarizes the genetic advances of hereditary sensory neuropathies and hereditary sensory and autonomic neuropathies, and provides information on phenotype-genotype correlation and on possible underlying pathomechanisms.Hereditary sensory neuropathies, also known as hereditary sensory and autonomic neuropathies, are a clinically and ...
Verhoeven, Kristien, Timmerman, Vincent, Mauko, Barbara, Pieber, Thomas R., De Jonghe, Peter, Auer-Grumbach, Michaela   +5 more
openaire   +3 more sources

KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC

International Journal of Neuroscience, 2022
Background: Hereditary sensory and autonomic neuropathies (HSANs) are rare heterogeneous group of neurological disorders caused by peripheral nerve deterioration.
Saima Ghafoor, M. Rafiq, S. T. Shah, M. Ansar, T. Paton, Muhmmad Ajmal, Z. Agha, R. Qamar, M. Azam   +8 more
semanticscholar   +1 more source

Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.

American Journal of Medical Genetics. Part A
Hereditary sensory and autonomic neuropathy type IV (HSAN4) is a rare neurological disorder characterized by anhidrosis and congenital insensitivity to pain caused by biallelic pathogenic variants in NTRK1.
Amal M Alhashem, Hanan Alqudairy, Jana Raed, Bashaer Al Bulushi, E. Faqeih, Rafa Alotbi, F. Al Mutairi, Majid Alfadhel, F. Alkuraya, N. Kaya   +9 more
semanticscholar   +1 more source

Hereditary Sensory and Autonomic Neuropathies

2015
The hereditary sensory and autonomic neuropathies (HSAN) are a group of rare, clinically and genetically heterogeneous disorders. A numerical classification (type I to V) based on clinical phenotype and pattern of inheritance is widely used but additional entities have been described.
Felicia B. Axelrod, Horacio Kaufmann
openaire   +1 more source