Search Results - "DRAC, H"

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene by KABZINSKA, D, DRAC, H, SHERMAN, D. L, KOSTERA-PRUSZCZYK, A, BROPHY, P. J, KOCHANSKI, A, HAUSMANOWA-PETRUSEWICZ, I

“…Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been…”
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A novel MPZ gene mutation in congenital neuropathy with hypomyelination by KOCHANSKI, A, DRAC, H, KABZINSKA, D, RYNIEWICZ, B, ROWINSKA-MARCINSKA, K, NOWAKOWSKI, A, HAUSMANOWA-PETRUSEWICZ, I

“…Congenital hypomyelinating neuropathy (CHN; MIM# 605253) is a severe neuropathy with early infancy onset inherited as an autosomal dominant or recessive trait…”
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Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report by Kochański, A., Drac, H., Jędrzejowska, H., Hausmanowa-Petrusewicz, I.

“…Charcot–Marie–Tooth disease type 1B (CMT1B) is a demyelinating neuropathy inherited as an autosomal dominant trait. The majority of CMT1B cases are caused by…”
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Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene by Kabzinska, D, Drac, H, Rowinska-Marcinska, K, Fidzianska, A, Kochanski, A, Hausmanowa-Petrusewicz, I

“…Mutations in the ganglioside -induced differentiation-associated protein 1 (GDAP1) gene are common a cause of the Charcot-Marie-Tooth (CMT4A) disease with…”
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Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene by Kabzińska, D, Kochański, A, Drac, H, Ryniewicz, B, Rowińska-Marcińska, K, Hausmanowa-Petrusewicz, I

“…A recessive demyelinating subtype of Charcot-Marie-Tooth disease called CMT4 is a heterogeneous group of disorders. A relatively frequent form of recessive CMT…”
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A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin by Kochanski, A., Drac, H., Kabzińska, D., Hausmanowa-Petrusewicz, I.

“…Charcot-Marie-Tooth type 1B disease is a demyelinating neuropathy caused by mutations in the Myelin Protein Zero gene. It is inherited in an autosomal dominant…”
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Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene by Kabzińska, D, Saifi, G M, Drac, H, Rowińska-Marcińska, K, Hausmanowa-Petrusewicz, I, Kochański, A, Lupski, J R

“…Charcot-Marie-Tooth type 4C4 disease (CMT4C4) is an early onset, autosomal recessive neuropathy with hoarseness caused by mutations in the GDAP1 gene which…”
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Coexistence of various vascular malformations within the brain by Rafałowska, J, Drac, H, Dziewulska, D, Bojakowski, J

“…Authors present two cases of basilar artery aneurysm accompanied by different development failures of blood vessels. In both cases anomaly in formation of…”
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On the specificity of focal thickenings of myelin in peripheral nerves by Drac, H

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Chronic progressive axonal polyneuropathy simulating Guillain-Barré syndrome by Drac, H, Babiuch, M

“…Six cases of chronic progressive and/or relapsing polyneuropathy are reported. All cases were idiopathic at the beginning of observation. Electrophysiological…”
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N.P.3 04 A novel Pro105Thr mutation in the MPZ gene causes late onset CMT2 disease with hearing impairment by Kochański, A., Kabzińska, D., Korwin-Piotrowska, T., Drechsler, H., Drac, H., Hausmanowa-Petrusewicz, I.

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Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome by Potulska-Chromik, Anna, Sinkiewicz-Darol, Elena, Kostera-Pruszczyk, Anna, Drac, Hanna, Kabzińska, Dagmara, Zakrzewska-Pniewska, Beata, Gołębiowski, Marek, Kochański, Andrzej

“…Charcot-Marie-Tooth type 1C disease (CMT1C) is a rare form of hereditary demyelinating neuropathy caused by mutations in the LITAF (lipopolysaccharide-induced…”
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Morphological and biochemical changes in peripheral nerves with aging by Drac, H, Babiuch, M, Wiśniewska, W

“…The ulnar nerve taken at autopsy from 30 subjects aged 24-98 who died without features of clinical involvement of peripheral nerves was examined…”
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Morphological changes in the peripheral nervous system in the case of congenital malformations of the spinal cord by Drac, H, Pniewski, J, Rafałowska, J

“…A 21-year-old oligophrenic man developed after upper respiratory tract infection, quadriplegia with sphincter and respiratory disturbances. Lumbar punction…”
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Inclusion body myositis (IBM). Morphological study by Fidziańska, A, Drac, H, Glinka, Z

“…Among the chronic idiopathic inflammatory myopathies inclusion body myositis (IBM) has emerged as a clinicopathologic variant. Slowly progressive weakness of…”
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A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease by Kabzińska, Dagmara, Kochański, Andrzej, Drac, Hanna, Rowińska-Marcińska, Katarzyna, Ryniewicz, Barbara, Pedrola, Laia, Palau, Francesc, Hausmanowa-Petrusewicz, Irena

“…Mutations in the gene coding for ganglioside-induced differentiation-associated protein-1 (GDAP1), which maps to chromosome 8q21, have been described in…”
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Histological changes in peripheral nerves in spinal Werdnig-Hoffmann muscular atrophy by Drac, H

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Progressive myopathy in hyperkalemic periodic paralysis by Bradley, W G, Taylor, R, Rice, D R, Hausmanowa-Petruzewicz, I, Adelman, L S, Jenkison, M, Jedrzejowska, H, Drac, H, Pendlebury, W W

“…A progressive degenerative myopathy has been well described in hypokalemic periodic paralysis but is not as widely recognized in hyperkalemic periodic…”
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An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene by Kochanski, Andrzej, Kabzinska, Dagmara, Nowakowski, Adam, Drac, Hanna, Hausmanowa-Petrusewicz, Irena

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Axonal form of Guillain-Barre syndrome? by Drac, H, Jamrozik, Z

“…Patient, 19 year old man with rapidly developing motor, sensory and autonomic polyneuropathy fulfilling diagnostic criteria for G-B syndrome is presented…”
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