All individuals with variants in gene ATL1

705 entries on 8 pages. Showing entries 1 - 100.
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00004105 - PubMed: Khan 2014 4 generation consanguineous family with 6 affected individuals, unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - SPG-3A scoliosis, urinary symptoms, pes cavus, decreased vibration sense, paresthesia, numbness, excessive tingling 1 6 Tahir Khan
00046993 - - - - - - - - 0 - - SPG-3A - 1 1 David Lynch
00057796 - PubMed: Varga 2013 5-generation family, 21 affecteds, numerous affected male carriers and several unaffected female carriers (and potentially a few male carriers) F ? United States - - 0 - - SPG early onset, clinically pure 1 21 Johan den Dunnen
00057801 - PubMed: Rainier 2006 2-generation family, affected mother/son F;M no - - - 0 - - SPG-3A childhood-onset spastic gait, similarly affected child, no previous family history of hereditary spastic paraplegia 1 2 Johan den Dunnen
00057808 - PubMed: Muglia 2002 4-generation family, 11 affecteds F;M no Italy - - 0 - - SPG-3A insidiously progressive lower extremity weakness/spasticity, mean age at onset 8.3y 1 11 Johan den Dunnen
00057833 - PubMed: Varga 2013 4-generation family; 4 homozygous affecteds, third affected sibbling is heterozygous, at least five more family members are heterozygous but unaffected F - Morocco - - 0 - - SPG subclinical signs 1 4 Johan den Dunnen
00059239 - - family, 2 affecteds M yes (France);Sudan - - 0 yes - SPG-3A spastic paraplegia, hyperreflexia 1 2 Mahmoud Koko
00094255 - PubMed: de Bot 2013 3-generation family, 3 affecteds F - Netherlands - - 0 - - SPG-3A unknown 1 1 Christian Beetz
00094256 - PubMed: de Bot 2013 3-generation family, 3 affecteds F - Netherlands - - 0 - - SPG-3A hyperlordosis 1 1 Christian Beetz
00094257 - PubMed: de Bot 2013 3-generation family, 3 affecteds M - Netherlands - - 0 - - SPG-3A pes planus 1 1 Christian Beetz
00094258 - PubMed: de Bot 2013 3-generation family, 2 affecteds, 1st generation not tested M - Netherlands - - 0 - - SPG-3A impaired vibration sense, bladder dysfunction, pes planus, restless legs syndrome, hyperlordosis 1 1 Christian Beetz
00094259 - PubMed: de Bot 2013 3-generation family, 2 affecteds, 1st generation not tested M - Netherlands - - 0 - - SPG-3A pes planus, restless legs syndrome 1 1 Christian Beetz
00094260 - PubMed: de Bot 2013 3-generation family, 6 affecteds F - Netherlands - - 0 - - SPG-3A unknown 1 1 Christian Beetz
00094261 - PubMed: de Bot 2013 3-generation family, 6 affecteds F - Netherlands - - 0 - - SPG-3A impaired vibration sense, bladder dysfunction, pes equinus, restless legs syndrome 1 1 Christian Beetz
00094262 - PubMed: de Bot 2013 3-generation family, 6 affecteds M - Netherlands - - 0 - - SPG-3A unknown 1 1 Christian Beetz
00094263 - PubMed: de Bot 2013 3-generation family, 6 affecteds M - Netherlands - - 0 - - SPG-3A restless legs syndrome 1 1 Christian Beetz
00094264 - PubMed: de Bot 2013 3-generation family, 6 affecteds M - Netherlands - - 0 - - SPG-3A unknown 1 1 Christian Beetz
00094265 - PubMed: de Bot 2013 3-generation family, 6 affecteds F - Netherlands - - 0 - - SPG-3A unknown 1 1 Christian Beetz
00094266 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094267 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094268 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094269 - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094270 - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094271 - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094272 - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094273 - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094274 - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094275 - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094276 - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094277 - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094278 - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094279 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A distal motor neuropathy, muscle wasting 1 1 Christian Beetz
00094280 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A distal motor neuropathy, muscle wasting 1 1 Christian Beetz
00094281 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A distal motor neuropathy, muscle wasting 1 1 Christian Beetz
00094282 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094283 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094284 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094285 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094286 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094287 - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094288 - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - 0 - - SPG-3A distal motor neuropathy, muscle wasting 1 1 Christian Beetz
00094289 - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - 0 - - SPG-3A distal motor neuropathy, muscle wasting 1 1 Christian Beetz
00094290 - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - 0 - - SPG-3A distal motor neuropathy, muscle wasting 1 1 Christian Beetz
00094291 - PubMed: Elert-Dobkowska 2015 4 affecteds ? - Poland - - 0 - - SPG-3A distal motor neuropathy, muscle wasting 1 1 Christian Beetz
00094292 - PubMed: Elert-Dobkowska 2015 8 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094293 - PubMed: Elert-Dobkowska 2015 8 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094294 - PubMed: Elert-Dobkowska 2015 8 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094295 - PubMed: Elert-Dobkowska 2015 8 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094296 - PubMed: Elert-Dobkowska 2015 8 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094297 - PubMed: Elert-Dobkowska 2015 8 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094298 - PubMed: Elert-Dobkowska 2015 8 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094299 - PubMed: Elert-Dobkowska 2015 8 affecteds ? - Poland - - 0 - - SPG-3A none 1 1 Christian Beetz
00094300 - PubMed: Loureiro 2013 family 1 out of 89 ? - Portugal - - 0 - - SPG-3A unknown 1 1 Christian Beetz
00094301 - PubMed: Loureiro 2013 family 2 out of 89 ? - Portugal - - 0 - - SPG-3A mental retardation 1 1 Christian Beetz
00094302 - PubMed: Loureiro 2013 family 3 out of 89 ? - Portugal - - 0 - - SPG-3A mental retardation 1 1 Christian Beetz
00094303 - PubMed: Loureiro 2013 family 4 out of 89 ? - Portugal - - 0 - - SPG-3A unknown 1 1 Christian Beetz
00094304 - PubMed: Ishiura 2014 variant 1 in exon 12 ? - Japan - - 0 - - SPG-3A none 1 1 Christian Beetz
00094305 - PubMed: Ishiura 2014 variant 2 in exon 12 ? - Japan - - 0 - - SPG-3A none 1 1 Christian Beetz
00094306 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy 1 1 Christian Beetz
00094307 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy 1 1 Christian Beetz
00094308 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy 1 1 Christian Beetz
00094309 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy 1 1 Christian Beetz
00094310 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy, upper limb involvement 1 1 Christian Beetz
00094311 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy, upper limb involvement, muscle wasting 1 1 Christian Beetz
00094312 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A upper limb involvement 1 1 Christian Beetz
00094313 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy, upper limb involvement, muscle wasting 1 1 Christian Beetz
00094314 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy, muscle wasting 1 1 Christian Beetz
00094315 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A distal sensory neuropathy, upper limb involvement 1 1 Christian Beetz
00094316 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A upper limb involvement 1 1 Christian Beetz
00094317 - PubMed: Guelly 2011 4-generation family, 12 affecteds ? - ? (unknown) - - 0 - - SPG-3A upper limb involvement 1 1 Christian Beetz
00094318 - PubMed: Guelly 2011 HSN Patient B with father M - ? (unknown) - - 0 - - SPG-3A distal sensorimotor neuropathy, foot ulcerations, lack of pain perception 1 1 Christian Beetz
00094319 - PubMed: Guelly 2011 HSN Patient B with father ? - ? (unknown) - - 0 - - SPG-3A distal sensorimotor neuropathy, foot ulcerations, lack of pain perception 1 1 Christian Beetz
00094320 - PubMed: Guelly 2011 HSN Patient A with deceased mother F - ? (unknown) - - 0 - - SPG-3A mild distal sensory neuropathy 1 1 Christian Beetz
00094321 - PubMed: Guelly 2011 HSN Patient A with deceased mother ? - ? (unknown) - - 0 - - SPG-3A mild distal sensory neuropathy 1 1 Christian Beetz
00094322 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y; upper limb involvement 1 1 Christian Beetz
00094323 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y; upper limb involvement 1 1 Christian Beetz
00094324 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y; upper limb involvement 1 1 Christian Beetz
00094325 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y; upper limb involvement 1 1 Christian Beetz
00094326 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094327 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094328 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094329 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094330 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094331 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094332 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094333 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094334 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094335 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094336 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094337 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094338 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094339 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094340 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094341 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094342 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094343 - PubMed: Abel 2004 22 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A age onset 2-50y 1 1 Christian Beetz
00094344 - PubMed: Abel 2004 6 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A none 1 1 Christian Beetz
00094345 - PubMed: Abel 2004 6 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A none 1 1 Christian Beetz
00094346 - PubMed: Abel 2004 6 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A none 1 1 Christian Beetz
00094347 - PubMed: Abel 2004 6 patients in 1 family ? - ? (unknown) - - 0 - - SPG-3A none 1 1 Christian Beetz
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